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.Trp244Cys	CA364431996 XM_017010944.2:c.732G>C CA364431999 XM_017010944.2:c.732G>T