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.Asp43Glu	CA364440856 XM_011514686.2:c.129T>G CA364440859 XM_011514686.2:c.129T>A