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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866434.1:p.[Met3133_Leu3134delinsIle;Val3136_Glu3137insThrCysArg;Asn3138_Ile3142delinsGlnArgGlyAspArg;Asn3144_Val3157delinsHisTyrSerGlyArgGlnTyrTyrTrpSerPheGlySerSer;Tyr3159_Val3160delinsCysIle;Ser3162Cys]
CA16041033
XM_017010945.2:c.9395_9398dup