Allele Registry

Canonical Allele Identifier: PA281081

Gene: COL5A2 HGNC NCBI

ClinVar RCV:

RCV000018738

RCV002513108

ClinVar Variation:

17198

HGVS (amino-acid)	Matching Registered Transcripts
NP_000384.2:p.Gly1149Arg	CA281080 NM_000393.5:c.3445G>C