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: PA915994374

Gene: PCCB HGNC NCBI

Linked Data

ClinVar Variation Id: 343477

ClinVar RCV Id: RCV000392658 RCV000626699 RCV000859703 RCV003957774

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171485.1:p.Lys494Arg	CA2632188 NM_001178014.2:c.1481A>G