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.Thr687Ser	CA346923742 NM_033109.5:c.2060C>G CA346923743 NM_033109.5:c.2059A>T