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_016866433.1:p.Val3183Leu
CA364420828
XM_017010944.2:c.9547G>T
CA364420829
XM_017010944.2:c.9547G>C