Canonical Allele Identifier: PA2499232084
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1063982
ClinVar RCV Id: RCV002242871

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Gly978Arg
CA349867236
NM_000393.5:c.2932G>C