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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.[Ala2307_Asp2312delinsCysSerAsnPheGlyArg;Asp2314_Gly2315delinsGlyTrpVal;Leu2317_Gly2319delinsValTrpGlu;Asn2321_Arg2322delinsGlnLys;Ile2325_Leu2332delinsSerCysPheTyrGlyAsnProPhe;Ala2334_Cys2336delinsPheLeu]
CA339528
XM_011514683.3:c.6918dup