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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512982.1:p.Cys3450Ser
CA364436151
XM_011514680.3:c.10349G>C
CA364436164
XM_011514680.3:c.10348T>A