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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Leu762_Val766delinsAlaTrpGlySerSer;Leu768_Asn779delinsTyrGlyArgThrGlyGlyLeuArgThrSerThrAla;Ile781_Asn785delinsThrLeuThrThr;Val787_Thr792delinsSerIleArgArgPro]
CA10585854
ENST00000560467.2:c.2283_2286del