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
ENSP00000341097.4:p.Asp1668Glu	CA364430148 ENST00000340994.4:c.5004C>G CA364430150 ENST00000340994.4:c.5004C>A