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_011512990.1:p.Cys1692Ser
CA364428800
XM_011514688.2:c.5075G>C
CA364428806
XM_011514688.2:c.5074T>A