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_011512988.1:p.Leu850Phe	CA364443106 XM_011514686.2:c.2550G>T CA364443107 XM_011514686.2:c.2550G>C