Allele Registry

Canonical Allele Identifier: PA2829991042

Gene: GMPPB HGNC NCBI

ClinVar RCV:

RCV000054432

RCV000054433

RCV000651273

RCV000788090

RCV001836725

RCV002513710

RCV004549480

ClinVar Variation:

60540

HGVS (amino-acid)	Matching Registered Transcripts
NP_068806.2:p.Asp334Asn	CA144551 NM_021971.4:c.1000G>A