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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Phe639_Trp645delinsTyrGlyArgThrGlyGlyLeu;Leu647_Asn651delinsThrSerThrAla;Ile653_Asn657delinsThrLeuThrThr;Val659_Ile670delinsSerIleArgArgProGlnArgMetArgSerThrPhe]
CA10585863
ENST00000455727.6:c.1916_1922del