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: HPGD HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243235.1:p.Asn131Lys	CA358812054 NM_001256306.2:c.393C>G CA358812055 NM_001256306.2:c.393C>A