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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866436.1:p.[Met3070_Leu3071delinsIle;Val3073_Glu3074insThrCysArg;Asn3075_Ile3079delinsGlnArgGlyAspArg;Asn3081_Val3094delinsHisTyrSerGlyArgGlnTyrTyrTrpSerPheGlySerSer;Tyr3096_Val3097delinsCysIle;Ser3099Cys]
CA16041033
XM_017010947.2:c.9206_9209dup