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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512986.1:p.[Val2956_Lys2957delinsArgGln;Val2959_Asn2965del;Val2967_Val2969del;Thr2971_Phe2975del;Ile2978_His2985delinsAla]
CA2695206426
XM_011514684.3:c.8865dup