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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.[Ala3402_Arg3404delinsGluGln;Arg3406_Thr3414delinsGlu;His3416_Pro3425delinsAlaIleAlaLeu;Met3427_Asn3431del]
CA2697553452
XM_011514683.3:c.10203_10204dup