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_016866436.1:p.Arg760Cys
CA149502
XM_017010947.2:c.2278C>T
CA3054209577
XM_017010947.2:c.2277_2278delinsGT