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_016866438.1:p.Arg2523Ser	CA364421087 XM_017010949.2:c.7569A>T CA364421088 XM_017010949.2:c.7569A>C