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_016866435.1:p.Cys3340Ser
CA364437280
XM_017010946.2:c.10019G>C
CA364437300
XM_017010946.2:c.10018T>A