Allele Registry

Canonical Allele Identifier: PA3057253915

Gene: PNPT1 HGNC NCBI

ClinVar RCV:

RCV004590486

ClinVar Variation:

3252514

HGVS (amino-acid)	Matching Registered Transcripts
NP_149100.2:p.Ala507Gly	CA47651898 NM_033109.5:c.1520C>G