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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512993.1:p.[Lys1220_Val1224delinsCysArgLeuCys;Arg1226_Val1229delinsGly;Val1231_Thr1233delinsGln;Ser1235_Asn1250delinsLeuTrpProProAlaLeuLeuLeuThrAlaPheArgThrLys]
CA913110676
XM_011514691.3:c.3658_3661del