Canonical Allele Identifier: PA658666436
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459712
ClinVar RCV Id: RCV002231309
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Met1774Thr
CA375460863
NM_001278074.1:c.5321T>C