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_011512991.1:p.Asp1667Glu	CA364430172 XM_011514689.1:c.5001T>G CA364430174 XM_011514689.1:c.5001T>A