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.Phe283Leu	CA3853741 XM_011514686.2:c.847T>C CA364430965 XM_011514686.2:c.849T>G CA364430968 XM_011514686.2:c.849T>A