Allele Registry

Canonical Allele Identifier: PA263340

Gene: GLDC HGNC NCBI

ClinVar RCV:

RCV000049470

RCV000704610

ClinVar Variation:

56061

580932

HGVS (amino-acid)	Matching Registered Transcripts
NP_000161.2:p.Gly728Arg	CA263338 NM_000170.3:c.2182G>C CA372881200 NM_000170.3:c.2182G>A