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_016866441.1:p.Glu1743Asp	CA364428020 XM_017010952.1:c.5229G>C CA364428022 XM_017010952.1:c.5229G>T