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.Thr854Ser	CA364443080 NM_138694.3:c.2561C>G CA364443082 NM_138694.3:c.2560A>T