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_016866433.1:p.Lys2450Asn	CA364421778 XM_017010944.2:c.7350G>T CA364421781 XM_017010944.2:c.7350G>C