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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866434.1:p.[Gly3153_Tyr3159delinsTrpSerPheGlySerSer;Phe3161_Asn3166delinsCysIlePheCys;Val3168Thr;Lys3170_Val3171delinsPheArg;Ile3173_Asn3177delinsLys;Val3179_Val3181delinsAlaAspCys]
CA2679078631
XM_017010945.2:c.9456dup