ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: PKHD1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
XP_016866437.1:p.Trp700Ter
XM_017010948.2:c.[2097del;2099G>T;2101T>A...
XM_017010948.2:c.2099G>A
XM_017010948.2:c.2100G>A
