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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.[Asp524_Leu527delinsGluLeuTrp;His529_Leu531delinsSerSerThr;Gln533Ser;Arg535_Ala537delinsSerGln;Ala539_Val553delinsArgLeuArgLeuGlnTrpProProArgArgHisProProSerGly]
CA783247951
NM_001195803.2:c.1571_1572insAT