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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.[Pro534Glu;Glu536_Thr543delinsLeuArgLeu;Glu545_Val549delinsTrpProProArg;Leu551_Val553delinsHisProPro;Ser555_Thr564delinsGly]
CA16602340
NM_001195803.2:c.1599_1602del