Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2579796835

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1310379

ClinVar RCV Id: RCV001767493 RCV002506777 RCV002544080

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Ala226Pro	CA321095500 NM_000071.3:c.676G>C