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_000006.12:g.1610020_1610021insAC , CM000668.2:g.1610020_1610021insAC	GRCh38
NC_000006.11:g.1610255_1610256insAC , CM000668.1:g.1610255_1610256insAC	GRCh37
NC_000006.10:g.1555254_1555255insAC	NCBI36
NG_009368.1:g.4575_4576insAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000645831.2:c.-426_-425insAC MANE Select	ENSP00000493906.1:n.-426_-425insAC
ENST00000380874.3:c.-426_-425insAC	ENSP00000370256.2:n.-426_-425insAC
NM_001453.3:c.-426_-425insAC MANE Select	NP_001444.2:n.-426_-425insAC