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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512985.1:p.[Val2979_Lys2980delinsArgGln;Val2982_Asn2988del;Val2990_Val2992del;Thr2994_Phe2998del;Ile3001_His3008delinsAla]
CA2695206426
XM_011514683.3:c.8934dup