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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Asp834_Val836delinsArgGlyPro;Ile838_Asn841delinsLeuPro;Asp843Pro;Tyr845_Arg850delinsArgLeu;Met852_Ser854delinsLeuPro;Asp857Thr;Val859_Ala860delinsGlyGlnSerGlyGly]
CA10585874
ENST00000558518.6:c.2500_2502delinsC