Allele Registry

Canonical Allele Identifier: PA916061613

Gene: GMPPB HGNC NCBI

ClinVar Allele:

443498

ClinVar RCV:

RCV000522572

RCV000529420

RCV000624021

ClinVar Variation:

451704

HGVS (amino-acid)	Matching Registered Transcripts
NP_068806.2:p.Arg311Cys	CA2405407 NM_021971.4:c.931C>T