Allele Registry

Canonical Allele Identifier: PA916061542

Gene: GMPPB HGNC NCBI

ClinVar RCV:

RCV000211125

RCV001814120

ClinVar Variation:

225927

HGVS (amino-acid)	Matching Registered Transcripts
NP_068806.2:p.Pro103Leu	CA10576145 NM_021971.4:c.308C>T