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_011512987.1:p.His258Gln	CA364431723 XM_011514685.1:c.774C>G CA364431725 XM_011514685.1:c.774C>A