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
ENSP00000341097.4:p.Trp937Ter
ENST00000340994.4:c.[2808del;2810G>T;2812...
ENST00000340994.4:c.2810G>A
ENST00000340994.4:c.2811G>A
