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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.[Trp625_Cys626delinsPro;Arg628_Thr630delinsGlnTrpArg;Ser632_Leu639delinsProValSerValProPro;Leu641del;Pro644Asp;Ile646_Asn647delinsPro;His649_Asp659delinsLeuAlaGlnValTyrLeuArgLeuProGlyArg]
CA10585716
ENST00000535915.5:c.1873_1889del