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.Leu3180Phe
CA364420841
XM_017010944.2:c.9540G>T
CA364420842
XM_017010944.2:c.9540G>C