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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.[Ala3379_Arg3381delinsGluGln;Arg3383_Thr3391delinsGlu;His3393_Pro3402delinsAlaIleAlaLeu;Met3404_Asn3408del]
CA2697553452
XM_011514684.3:c.10134_10135dup