Allele Registry

Canonical Allele Identifier: PA325351

Gene: COL5A1 HGNC NCBI

ClinVar RCV:

RCV002229049

RCV002321784

RCV003967509

ClinVar Variation:

212961

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265003.1:p.Pro1100Leu	CA325349 NM_001278074.1:c.3299C>T