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_016866438.1:p.Trp1778Cys	CA364423234 XM_017010949.2:c.5334G>T CA364423243 XM_017010949.2:c.5334G>C