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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866435.1:p.[Met3093_Leu3094delinsIle;Val3096_Glu3097insThrCysArg;Asn3098_Ile3102delinsGlnArgGlyAspArg;Asn3104_Val3117delinsHisTyrSerGlyArgGlnTyrTyrTrpSerPheGlySerSer;Tyr3119_Val3120delinsCysIle;Ser3122Cys]
CA16041033
XM_017010946.2:c.9275_9278dup