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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453696.2:p.[Ser499_Lys504delinsCysCysGlyTyrGln;Val506_Lys507del;Lys509_Asn515delinsGluGluGluAsnValIleGln;Ser517_Arg520delinsGluArgLeuGln;Ile522_Gly529delinsLysGlyHisArgGlyGlySerCysSerTrp]
CA10585481
ENST00000559340.2:c.1496_1497del