Allele Registry

Canonical Allele Identifier: PA323571

Gene: PNPT1 HGNC NCBI

ClinVar RCV:

RCV000199028

RCV001332755

RCV003152597

ClinVar Variation:

215005

HGVS (amino-acid)	Matching Registered Transcripts
NP_149100.2:p.Pro165Ser	CA323570 NM_033109.5:c.493C>T