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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.[Asp793_Val795delinsArgGlyPro;Ile797_Asn800delinsLeuPro;Asp802Pro;Tyr804_Arg809delinsArgLeu;Met811_Ser813delinsLeuPro;Asp816Thr;Val818_Ala819delinsGlyGlnSerGlyGly]
CA10585874
ENST00000535915.5:c.2377_2379delinsC