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_011512985.1:p.Leu164Phe	CA364436145 XM_011514683.3:c.492G>T CA364436148 XM_011514683.3:c.492G>C