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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Phe275_Asn278delinsLeuHisGlnProAla;His280_Asp288delinsGlyGlnGluAspAspAlaGlyProGlu;Ser290_Ile296delinsValHisGlnProHisProGln;Asn298_Leu299delinsGluGlu;Asn301_Ala304delinsGlyArgSer]
CA16609814
ENST00000545707.5:c.823_824del