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.Asp2059Glu	CA364439877 NM_138694.3:c.6177C>G CA364439878 NM_138694.3:c.6177C>A