Allele Registry

Canonical Allele Identifier: PA281497

Gene: COL5A2 HGNC NCBI

ClinVar RCV:

RCV000190499

ClinVar Variation:

208486

HGVS (amino-acid)	Matching Registered Transcripts
NP_000384.2:p.Thr1388Asn	CA281496 NM_000393.5:c.4163C>A