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
XP_016860661.1:p.Thr607Ser	CA346923742 XM_017005172.1:c.1820C>G CA346923743 XM_017005172.1:c.1819A>T