Allele Registry

Canonical Allele Identifier: PA322067

Gene: PNPT1 HGNC NCBI

ClinVar RCV:

RCV000197606

RCV000680151

RCV000787360

RCV001089488

RCV001266860

RCV003147399

RCV003152598

ClinVar Variation:

215010

HGVS (amino-acid)	Matching Registered Transcripts
NP_149100.2:p.Ala507Ser	CA322066 NM_033109.5:c.1519G>T