Allele Registry

Canonical Allele Identifier: PA099357

Gene: COL5A1 HGNC NCBI

ClinVar Allele:

32224

ClinVar RCV:

RCV000032107

RCV001290029

ClinVar Variation:

17185

HGVS (amino-acid)	Matching Registered Transcripts
NP_000084.3:p.Cys1639Ser	CA343119 NM_000093.5:c.4916G>C CA375458714 NM_000093.5:c.4915T>A