Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47353525C>A , CM000672.2:g.47353525C>A	GRCh38
NC_000010.10:g.48385837G>T , CM000672.1:g.48385837G>T	GRCh37
NC_000010.9:g.48005843G>T	NCBI36
NG_029718.1:g.10155C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000584701.2:c.3245+10C>A MANE Select	ENSP00000463151.1:n.3245+10C>A
ENST00000584701.1:c.3245+10C>A	ENSP00000463151.1:n.3245+10C>A
NM_002900.2:c.3245+10C>A	NP_002891.1:n.3245+10C>A
NM_002900.3:c.3245+10C>A MANE Select	NP_002891.1:n.3245+10C>A