Allele Registry

Canonical Allele Identifier: PA095342

Gene: PNPT1 HGNC NCBI

ClinVar RCV:

RCV000033022

ClinVar Variation:

39801

HGVS (amino-acid)	Matching Registered Transcripts
NP_149100.2:p.Gln387Arg	CA130566 NM_033109.5:c.1160A>G