Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Chr	Mutation (hg38)	CAid	Linkouts
1	g.55492379_55492400dup	CA916181428	dbSNP
1	g.55492394G>A	CA737043063	dbSNP gnomAD v3 gnomAD v4
1	g.55492394G=	CA1168163967
1	g.55492395C>A	CA737043070	dbSNP
1	g.55492395C=	CA1144509320
1	g.55492395C>T	CA22950525	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.55492396G>A	CA737043073	dbSNP gnomAD v3 gnomAD v4
1	g.55492396G=	CA1168163968
1	g.55492398G>C	CA737043079	dbSNP gnomAD v3 gnomAD v4
1	g.55492398G=	CA1168163969
1	g.55492399G>A	CA22950526	dbSNP
1	g.55492399G=	CA1168163970
1	g.55492401C=	CA1144128795
1	g.55492401C>T	CA22950527	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.55492406T>C	CA22950528	dbSNP
1	g.55492406T=	CA1168163971
1	g.55492408C=	CA1168163972
1	g.55492408C>G	CA22950529	dbSNP gnomAD v3 gnomAD v4
1	g.55492408C>T	CA22950530	dbSNP gnomAD v3 gnomAD v4
1	g.55492410C=	CA1168163973
1	g.55492410C>T	CA645821819	dbSNP COSMIC
1	g.55492411A=	CA1168163974
1	g.55492411A>T	CA1168163975	dbSNP
1	g.55492416C=	CA1168163976
1	g.55492416C>T	CA22950531	dbSNP gnomAD v3 gnomAD v4
1	g.55492417G>A	CA22950532	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.55492417G=	CA1142623567
1	g.55492417G>T	CA737043091	dbSNP gnomAD v3 gnomAD v4
1	g.55492421G>C	CA22950533	dbSNP
1	g.55492421G=	CA1168163977
1	g.55492424T>A	CA22950534	dbSNP
1	g.55492424T=	CA1168163978
1	g.55492428C=	CA1168163980
1	g.55492428C>T	CA1168163979	dbSNP
1	g.55492429T>A	CA1001961603	dbSNP gnomAD v3 gnomAD v4
1	g.55492429T>C	CA22950535	dbSNP gnomAD v3 gnomAD v4
1	g.55492429T=	CA1168163981
1	g.55492429_55492430delinsTC	CA1168163982
1	g.55492430C>A	CA10672748	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.55492430C=	CA1139793321
1	g.55492435del	CA916181430	dbSNP
1	g.55492431C>A	CA737043095	dbSNP
1	g.55492431C=	CA1168163983
1	g.55492432C=	CA1168163984
1	g.55492432C>T	CA523092666	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.55492433C>A	CA523092667	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.55492433C=	CA1139888771
1	g.55492433C>G	CA10771026	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.55492433C>T	CA737043100	dbSNP gnomAD v3 gnomAD v4
1	g.55492434C>A	CA22950536	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched