Allele Registry

Canonical Allele Identifier: PA281509

Gene: COL5A1 HGNC NCBI

ClinVar Allele:

205759

ClinVar RCV:

RCV000191074

RCV001753592

RCV002228828

RCV002321771

ClinVar Variation:

209143

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265003.1:p.Pro136Ser	CA281507 NM_001278074.1:c.406C>T