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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.[Val459_Arg472delinsCysGlyTyrGlnGlyArgGluGluGluAsnValIleGlnGly;Asn474_Gly488delinsArgLeuGlnAlaLysGlyHisArgGlyGlySerCysSerTrpLeu]
CA10585482
ENST00000535915.5:c.1375_1376del