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_000003.12:g.169764831_169764845delinsGGCAGGCGACCCGCC , CM000665.2:g.169764831_169764845delinsGGCAGGCGACCCGCC	GRCh38
NC_000003.11:g.169482619_169482633delinsGGCAGGCGACCCGCC , CM000665.1:g.169482619_169482633delinsGGCAGGCGACCCGCC	GRCh37
NC_000003.10:g.170965313_170965327delinsGGCAGGCGACCCGCC	NCBI36
NG_016363.1:g.5216_5230delinsGGCGGGTCGCCTGCC , LRG_347:g.5216_5230delinsGGCGGGTCGCCTGCC

Transcript Alleles

HGVS	Amino-acid change
NR_001566.1:n.216_230delinsGGCGGGTCGCCTGCC , LRG_347t1:n.216_230delinsGGCGGGTCGCCTGCC