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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.[Lys349_Lys352delinsArgPro;Val354_Ile357delinsArgLeuTrp;Tyr359_Phe362delinsProSerPro;Asn364_Met371delinsSerSerSerProThrGly;Leu373_Asp374del;Glu377_Tyr378delinsGlyArg]
CA2017999290
ENST00000535915.5:c.1046del
CA2573155735
ENST00000535915.5:c.1044del