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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.[Ile83_Leu105delinsMetAlaSerValLeuGluValArgTrpProSerGlyLeuArgGlnArgLeuArgArgAlaArgLeuSerAsp;Cys108_Glu109delinsArg;Pro111_Lys113delinsThrGlnGln]
CA915951651
ENST00000455727.6:c.249delinsGG