Allele Registry

Canonical Allele Identifier: PA325350

Gene: COL5A1 HGNC NCBI

ClinVar RCV:

RCV002229049

RCV002321784

RCV003967509

ClinVar Variation:

212961

HGVS (amino-acid)	Matching Registered Transcripts
NP_000084.3:p.Pro1100Leu	CA325349 NM_000093.5:c.3299C>T