Canonical Allele Identifier: PA321094
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213113
ClinVar RCV Id: RCV000196667

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Pro998Leu
CA321093
NM_000393.5:c.2993C>T