Canonical Allele Identifier: PA658802433
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 519679
ClinVar RCV Id: RCV002233027 RCV002314283 RCV003144398
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Arg1283His
CA2021908
NM_000393.5:c.3848G>A