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_011512988.1:p.Arg2052Ser
CA364439918
XM_011514686.2:c.6156A>T
CA364439919
XM_011514686.2:c.6156A>C