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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Lys581_Leu582insPro;Ser584_Asn591delinsLeuLysHisArgCysGlnArg;Gly593_Leu599delinsGlnPro;Glu602_Arg604delinsHis;Ala606_Ala612delinsGlyGly]
CA10585594
ENST00000557933.5:c.1745_1746del