Allele Registry

Canonical Allele Identifier: PA343120

Gene: COL5A1 HGNC NCBI

ClinVar RCV:

RCV000032107

RCV001290029

ClinVar Variation:

17185

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265003.1:p.Cys1639Ser	CA343119 NM_001278074.1:c.4916G>C CA375458714 NM_001278074.1:c.4915T>A