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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866437.1:p.[Met2921_Leu2922delinsIle;Val2924_Glu2925insThrCysArg;Asn2926_Ile2930delinsGlnArgGlyAspArg;Asn2932_Val2945delinsHisTyrSerGlyArgGlnTyrTyrTrpSerPheGlySerSer;Tyr2947_Val2948delinsCysIle;Ser2950Cys]
CA16041033
XM_017010948.2:c.8759_8762dup