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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Leu767_Asn778delinsTyrGlyArgThrGlyGlyLeuArgThrSerThrAla;Ile780_Asn784delinsThrLeuThrThr;Val786_Ile797delinsSerIleArgArgProGlnArgMetArgSerThrPhe]
CA645509302
NM_001195799.2:c.2299_2302del