Canonical Allele Identifier: PA1139685388
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 858094
ClinVar RCV Id: RCV002240507
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Arg128His
CA2023110
NM_000393.5:c.383G>A