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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866435.1:p.[Lys3130_Val3134delinsCysArgLeuCys;Arg3136_Val3139delinsGly;Val3141_Thr3143delinsGln;Ser3145_Asn3160delinsLeuTrpProProAlaLeuLeuLeuThrAlaPheArgThrLys]
CA913110676
XM_017010946.2:c.9388_9391del