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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.[Gly2558_Tyr2564delinsTrpSerPheGlySerSer;Phe2566_Asn2571delinsCysIlePheCys;Val2573Thr;Lys2575_Val2576delinsPheArg;Ile2578_Asn2582delinsLys;Val2584_Val2586delinsAlaAspCys]
CA2679078631
XM_017010949.2:c.7671dup