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_011512981.1:p.Gln1610His
CA364431175
XM_011514679.1:c.4830G>T
CA364431177
XM_011514679.1:c.4830G>C