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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Ser416_Asn423delinsTyrLeuLysHisArgCysGlnArg;Gly425_Leu431delinsGlnPro;Glu434_Ala438del;Pro440_Ser442del;Ala444_Phe446delinsGlyGly]
CA2830773958
NM_001195800.2:c.1247_1248del