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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Lys281_Asp293delinsSerSerSerValThrAlaAlaAsnAlaSerProTrpThr;Val295_Glu308delinsSerAlaThrTrpLeuGluThrAlaGlyThrGlyGlnMetAsn;Ile310Ser]
CA2695238669
ENST00000560467.2:c.842del