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_000012.12:g.68158742T>C , CM000674.2:g.68158742T>C	GRCh38
NC_000012.11:g.68552522T>C , CM000674.1:g.68552522T>C	GRCh37
NC_000012.10:g.66838789T>C	NCBI36
NG_015840.1:g.6000A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000229135.4:c.115-483A>G MANE Select	ENSP00000229135.3:n.115-483A>G
ENST00000229135.3:c.115-483A>G	ENSP00000229135.3:n.115-483A>G
NM_000619.2:c.115-483A>G	NP_000610.2:n.115-483A>G
NM_000619.3:c.115-483A>G MANE Select	NP_000610.2:n.115-483A>G