Allele Registry

Canonical Allele Identifier: PA645478825

Gene: PNPT1 HGNC NCBI

ClinVar RCV:

RCV000239707

RCV002518548

ClinVar Variation:

253224

HGVS (amino-acid)	Matching Registered Transcripts
NP_149100.2:p.Ala510Pro	CA10586243 NM_033109.5:c.1528G>C