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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866434.1:p.[Val3168_Lys3169delinsArgGln;Val3171_Asn3177del;Val3179_Val3181del;Thr3183_Phe3187del;Ile3190_His3197delinsAla]
CA2695206426
XM_017010945.2:c.9501dup