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.Asn171Lys	CA346938851 NM_033109.5:c.513T>G CA346938852 NM_033109.5:c.513T>A