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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866438.1:p.[Ser2567_Val2573delinsLeuLeuHisLysIleProSer;Val2576_Val2579delinsCysArgLeuCys;Arg2581_Gln2596delinsGlyIleGlnSerLeuTrpProProAlaLeuLeuLeuThrAlaPheArg]
CA276016
XM_017010949.2:c.7699del
CA891862705
XM_017010949.2:c.7700del