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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453696.2:p.[Glu228_Cys236delinsGlyGlyLysLeu;Pro238_Gln242del;Ser244_Asp245del;Asn247_Ile249del;Gly251Leu;Arg253_Arg257delinsPro]
CA1139532995
ENST00000559340.2:c.682dup