Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: PNPT1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_149100.2:p.Thr683Ser	CA346923765 NM_033109.5:c.2048C>G CA346923767 NM_033109.5:c.2047A>T