Canonical Allele Identifier: PA1139686755
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 851542
ClinVar RCV Id: RCV001759803 RCV002240338
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Pro1523His
CA375457981
NM_001278074.1:c.4568C>A