Canonical Allele Identifier: PA2741848870
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2699682
ClinVar RCV Id: RCV003594872
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Ile55Lys
CA375440406
NM_001278074.1:c.164T>A