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: PA2827663164

Gene: PCCA HGNC NCBI

Linked Data

ClinVar Variation Id: 218259

ClinVar RCV Id: RCV000237065

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339534.1:p.Gly144Val	CA10575824 NM_001352605.2:c.431G>T