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: PKHD1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_016866440.1:p.Glu2075Asp	CA364439701 XM_017010951.1:c.6225A>T CA364439703 XM_017010951.1:c.6225A>C