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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512989.1:p.[Ala2521_Asp2526delinsCysSerAsnPheGlyArg;Asp2528_Gly2529delinsGlyTrpVal;Leu2531_Gly2533delinsValTrpGlu;Asn2535_Arg2536delinsGlnLys;Ile2539_Leu2546delinsSerCysPheTyrGlyAsnProPhe;Ala2548_Cys2550delinsPheLeu]
CA339528
XM_011514687.1:c.7560dup