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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Met661_Ala664del;Asp666_Glu673delinsHis;Glu675del;Ala677_Gln681delinsGlyGlnGlyHisGlu;Thr683_Val686delinsLeuProHis;Leu688_Lys689delinsGly]
CA2580096709
NM_001195799.2:c.1976_1979dup