Allele Registry

Canonical Allele Identifier: PA353679

Gene: COL5A2 HGNC NCBI

ClinVar RCV:

RCV000208436

RCV001262877

RCV002229535

RCV002336576

ClinVar Variation:

222528

HGVS (amino-acid)	Matching Registered Transcripts
NP_000384.2:p.Arg155Cys	CA353678 NM_000393.5:c.463C>T