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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Gln85_Cys104delinsIleLeuSerValLeuGluValArgTrpProSerGlyLeuArgGlnArgLeuArgArgAlaArg;Leu105_Thr106insSerAsp;Cys108_Lys113delinsArgGlyThrGlnGlnVal]
CA645373252
ENST00000455727.6:c.251_252insCATTCTG