Allele Registry

Canonical Allele Identifier: PA2499244835

Gene: COL5A1 HGNC NCBI

ClinVar RCV:

RCV002241681

ClinVar Variation:

999394

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265003.1:p.Arg681Cys	CA375446873 NM_001278074.1:c.2041C>T