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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866438.1:p.[Ala2996_Arg2998delinsGluGln;Arg3000_Thr3008delinsGlu;His3010_Pro3019delinsAlaIleAlaLeu;Met3021_Asn3025del]
CA2697553452
XM_017010949.2:c.8985_8986dup