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_011512989.1:p.His216Gln	CA364433395 XM_011514687.1:c.648T>G CA364433397 XM_011514687.1:c.648T>A