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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Thr148_Cys149insSer;Val152_Ser156delinsProAlaAsnPro;Asp158_Phe159delinsThr;Cys161_Gly162delinsAlaVal;Arg164Ala;Asn166_Gln178delinsSerThrAlaAlaPheLeuSerSerGlyGlyAlaMetAlaLys]
CA2497030095
ENST00000252444.10:c.446del