Canonical Allele Identifier: PA2741849007
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2704812
ClinVar RCV Id: RCV003594986
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Asp418Asn
CA5318691
NM_001278074.1:c.1252G>A