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
NP_619639.3:p.Val96Leu	CA364439793 NM_138694.3:c.286G>T CA364439795 NM_138694.3:c.286G>C