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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Lys240_Asp252delinsSerSerSerValThrAlaAlaAsnAlaSerProTrpThr;Val254_Glu267delinsSerAlaThrTrpLeuGluThrAlaGlyThrGlyGlnMetAsn;Ile269Ser]
CA2695238669
ENST00000535915.5:c.719del