Allele Registry

Canonical Allele Identifier: PA645478778

Gene: PNPT1 HGNC NCBI

ClinVar RCV:

RCV000239625

ClinVar Variation:

253225

HGVS (amino-acid)	Matching Registered Transcripts
NP_149100.2:p.Gln254Lys	CA10586244 NM_033109.5:c.760C>A