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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453346.1:p.[Cys222_Cys236delinsProThrGlyGlyLysLeu;Pro238_Gln242del;Ser244_Asp245del;Asn247_Ile249del;Gly251Leu;Arg253_Arg257delinsPro]
CA10585052
ENST00000558013.5:c.664_681delinsCCGACTG