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: PA2825653757

Gene: PCCA HGNC NCBI

Linked Data

ClinVar Variation Id: 38867

ClinVar RCV Id: RCV000032110

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121164.1:p.Ala112Thr	CA343123 NM_001127692.3:c.334G>A