Allele Registry

Canonical Allele Identifier: PA645478773

Gene: PNPT1 HGNC NCBI

ClinVar RCV:

RCV000489241

RCV003989539

ClinVar Variation:

427125

HGVS (amino-acid)	Matching Registered Transcripts
NP_149100.2:p.Ala173Thr	CA1668443 NM_033109.5:c.517G>A