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_016866434.1:p.Val2748Leu
CA3851664
XM_017010945.2:c.8242G>T
CA364416571
XM_017010945.2:c.8242G>C