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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Lys350_Lys353delinsArgPro;Val355_Ile358delinsArgLeuTrp;Tyr360_Phe363delinsProSerPro;Asn365_Met372delinsSerSerSerProThrGly;Leu374_Asp375del;Glu378_Tyr379delinsGlyArg]
CA2017999290
ENST00000560467.2:c.1049del
CA2573155735
ENST00000560467.2:c.1047del