Allele Registry

Canonical Allele Identifier: PA2573090189

Gene: GMPPB HGNC NCBI

ClinVar RCV:

RCV000413124

RCV002058865

RCV003133248

ClinVar Variation:

373160

HGVS (amino-acid)	Matching Registered Transcripts
NP_037466.3:p.Tyr340Cys	CA2405383 NM_013334.4:c.1019A>G