Allele Registry

Canonical Allele Identifier: PA324899

Gene: COL5A2 HGNC NCBI

ClinVar RCV:

RCV000200339

ClinVar Variation:

213121

HGVS (amino-acid)	Matching Registered Transcripts
NP_000384.2:p.Thr1148Ile	CA324898 NM_000393.5:c.3443C>T