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.Arg388Ser	CA346928581 NM_033109.5:c.1164A>T CA346928582 NM_033109.5:c.1164A>C