Allele Registry

Canonical Allele Identifier: PA645500658

Gene: COL5A2 HGNC NCBI

ClinVar RCV:

RCV002230352

ClinVar Variation:

408292

HGVS (amino-acid)	Matching Registered Transcripts
NP_000384.2:p.Thr1388Ile	CA16610672 NM_000393.5:c.4163C>T