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_011512989.1:p.Trp1644Cys
CA3852642
XM_011514687.1:c.4932G>T
CA364430555
XM_011514687.1:c.4932G>C