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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512985.1:p.[Ser2973_Val2979delinsLeuLeuHisLysIleProSer;Val2982_Val2985delinsCysArgLeuCys;Arg2987_Gln3002delinsGlyIleGlnSerLeuTrpProProAlaLeuLeuLeuThrAlaPheArg]
CA276016
XM_011514683.3:c.8917del
CA891862705
XM_011514683.3:c.8918del