Allele Registry

Canonical Allele Identifier: PA281508

Gene: COL5A1 HGNC NCBI

ClinVar Allele:

205759

ClinVar RCV:

RCV000191074

RCV001753592

RCV002228828

RCV002321771

ClinVar Variation:

209143

HGVS (amino-acid)	Matching Registered Transcripts
NP_000084.3:p.Pro136Ser	CA281507 NM_000093.5:c.406C>T