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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512983.1:p.[Val3150_Lys3151delinsArgGln;Val3153_Asn3159del;Val3161_Val3163del;Thr3165_Phe3169del;Ile3172_His3179delinsAla]
CA2695206426
XM_011514681.1:c.9447dup