Canonical Allele Identifier: PA2741849000
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2813709
ClinVar RCV Id: RCV003760857
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Asp399Glu
CA201108760
NM_001278074.1:c.1197C>G
CA375450664
NM_001278074.1:c.1197C>A