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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.[Lys2575_Val2579delinsCysArgLeuCys;Arg2581_Val2584delinsGly;Val2586_Thr2588delinsGln;Ser2590_Asn2605delinsLeuTrpProProAlaLeuLeuLeuThrAlaPheArgThrLys]
CA913110676
XM_017010949.2:c.7723_7726del