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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Val500_Arg513delinsCysGlyTyrGlnGlyArgGluGluGluAsnValIleGlnGly;Asn515_Gly529delinsArgLeuGlnAlaLysGlyHisArgGlyGlySerCysSerTrpLeu]
CA10585482
ENST00000557933.5:c.1498_1499del