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_000009.12:g.101585872T>G , CM000671.2:g.101585872T>G	GRCh38
NC_000009.11:g.104348154T>G , CM000671.1:g.104348154T>G	GRCh37
NC_000009.10:g.103387975T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361820.6:c.2767-6512A>C MANE Select	ENSP00000355155.3:n.2767-6512A>C
ENST00000361820.3:c.2767-6512A>C	ENSP00000355155.3:n.2767-6512A>C
NM_133445.2:c.2767-6512A>C	NP_597702.2:n.2767-6512A>C
NM_133445.3:c.2767-6512A>C MANE Select	NP_597702.2:n.2767-6512A>C