Allele Registry

Canonical Allele Identifier: PA645500517

Gene: COL5A2 HGNC NCBI

ClinVar RCV:

RCV000421437

ClinVar Variation:

391610

HGVS (amino-acid)	Matching Registered Transcripts
NP_000384.2:p.Gly1182Cys	CA16604076 NM_000393.5:c.3544G>T