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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.[Leu642del;Pro645Asp;Ile647_Asn648delinsPro;His650_Cys658delinsLeuAlaGlnValTyrLeuArgLeu;Asp660del;Met662_Leu664delinsArgHisAla;Arg666_Cys671delinsGlyGlnGlyHisGluGlu;Thr673_Glu674delinsProHisArg]
CA2695228172
ENST00000560467.2:c.1925_1932del