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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.[Cys351_Lys352del;Val354_Ile357delinsArgLeuTrp;Tyr359_Phe362delinsProSerPro;Asn364_Met371delinsSerSerSerProThrGly;Leu373_Asp374del;Glu377_Ser380delinsGlyArg]
CA10585334
ENST00000535915.5:c.1050del