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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Leu894_Asn905delinsTyrGlyArgThrGlyGlyLeuArgThrSerThrAla;Ile907_Asn911delinsThrLeuThrThr;Val913_Ile924delinsSerIleArgArgProGlnArgMetArgSerThrPhe]
CA645509302
ENST00000252444.10:c.2680_2683del