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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Glu536_Thr543delinsArgLeuArgLeu;Glu545_Val549delinsTrpProProArg;Leu551_Val553delinsHisProPro;Ser555_Thr565delinsGly]
CA2573050617
NM_001195803.2:c.1605del