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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.[Met2944_Leu2945delinsIle;Val2947_Glu2948insThrCysArg;Asn2949_Ile2953delinsGlnArgGlyAspArg;Asn2955_Val2968delinsHisTyrSerGlyArgGlnTyrTyrTrpSerPheGlySerSer;Tyr2970_Val2971delinsCysIle;Ser2973Cys]
CA16041033
XM_011514683.3:c.8828_8831dup