Allele Registry

Canonical Allele Identifier: PA2573090194

Gene: GMPPB HGNC NCBI

ClinVar RCV:

RCV000054441

RCV000440664

RCV000501778

RCV000623470

RCV000651278

RCV001330455

ClinVar Variation:

60547

HGVS (amino-acid)	Matching Registered Transcripts
NP_037466.3:p.Val357Ile	CA144570 NM_013334.4:c.1069G>A