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.143485100_143485101dup , CM000668.2:g.143485100_143485101dup	GRCh38
NC_000006.11:g.143806237_143806238dup , CM000668.1:g.143806237_143806238dup	GRCh37
NC_000006.10:g.143847930_143847931dup	NCBI36
NG_008459.1:g.39320_39321dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000367591.5:c.942-52_942-51dup MANE Select	ENSP00000356563.4:n.942-52_942-51dup
ENST00000367591.4:c.942-52_942-51dup	ENSP00000356563.4:n.942-52_942-51dup
ENST00000585848.1:n.29_30dup
NM_003630.2:c.942-52_942-51dup	NP_003621.1:n.942-52_942-51dup
NM_003630.3:c.942-52_942-51dup MANE Select	NP_003621.1:n.942-52_942-51dup