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.Asp1668Glu	CA364430148 XM_017010952.1:c.5004C>G CA364430150 XM_017010952.1:c.5004C>A