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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.[Ala351_Lys353delinsPro;Val355_Ile358delinsArgLeuTrp;Tyr360_Phe363delinsProSerPro;Asn365_Met372delinsSerSerSerProThrGly;Leu374_Asp375del;Glu378_Thr380delinsGlyArg]
CA2497030057
ENST00000560467.2:c.1051del