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.Ile686Leu	CA346923750 NM_033109.5:c.2056A>T CA346923752 NM_033109.5:c.2056A>C