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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866436.1:p.[Gly3090_Tyr3096delinsTrpSerPheGlySerSer;Phe3098_Asn3103delinsCysIlePheCys;Val3105Thr;Lys3107_Val3108delinsPheArg;Ile3110_Asn3114delinsLys;Val3116_Val3118delinsAlaAspCys]
CA2679078631
XM_017010947.2:c.9267dup