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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Leu630_Asn641delinsTyrGlyArgThrGlyGlyLeuArgThrSerThrAla;Ile643_Asn647delinsThrLeuThrThr;Val649_Ile660delinsSerIleArgArgProGlnArgMetArgSerThrPhe]
CA645509302
NM_001195803.2:c.1888_1891del