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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866439.1:p.[Met3158_Leu3159delinsIle;Val3161_Glu3162insThrCysArg;Asn3163_Ile3167delinsGlnArgGlyAspArg;Asn3169_Val3182delinsHisTyrSerGlyArgGlnTyrTyrTrpSerPheGlySerSer;Tyr3184_Val3185delinsCysIle;Ser3187Cys]
CA16041033
XM_017010950.1:c.9470_9473dup