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: PA645434919

Gene: PCCA HGNC NCBI

Linked Data

ClinVar Variation Id: 310845

ClinVar RCV Id: RCV000282575

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000273.2:p.Ile260Leu	CA7033379 NM_000282.4:c.778A>C CA388694337 NM_000282.4:c.778A>T