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_011512983.1:p.Cys1625Ser
CA364430902
XM_011514681.1:c.4874G>C
CA364430908
XM_011514681.1:c.4873T>A