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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Leu767_Asn778delinsTyrGlyArgThrGlyGlyLeuArgThrSerThrAla;Ile780_Asn784delinsThrLeuThrThr;Val786_Ile797delinsSerIleArgArgProGlnArgMetArgSerThrPhe]
CA645509302
ENST00000535915.5:c.2299_2302del