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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866437.1:p.[Ser2950_Val2956delinsLeuLeuHisLysIleProSer;Val2959_Val2962delinsCysArgLeuCys;Arg2964_Gln2979delinsGlyIleGlnSerLeuTrpProProAlaLeuLeuLeuThrAlaPheArg]
CA276016
XM_017010948.2:c.8848del
CA891862705
XM_017010948.2:c.8849del