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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512984.1:p.[Met3112_Leu3113delinsIle;Val3115_Glu3116insThrCysArg;Asn3117_Ile3121delinsGlnArgGlyAspArg;Asn3123_Val3136delinsHisTyrSerGlyArgGlnTyrTyrTrpSerPheGlySerSer;Tyr3138_Val3139delinsCysIle;Ser3141Cys]
CA16041033
XM_011514682.3:c.9332_9335dup