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_016866437.1:p.Thr2782Ser	CA364424065 XM_017010948.2:c.8345C>G CA364424068 XM_017010948.2:c.8344A>T