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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512983.1:p.[Ser3144_Val3150delinsLeuLeuHisLysIleProSer;Val3153_Val3156delinsCysArgLeuCys;Arg3158_Gln3173delinsGlyIleGlnSerLeuTrpProProAlaLeuLeuLeuThrAlaPheArg]
CA276016
XM_011514681.1:c.9430del
CA891862705
XM_011514681.1:c.9431del