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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Val179_Glu185del;Ile187_Asp192delinsGly;Asp194_Gly206delinsAlaLysMetArgArg;Lys208Arg]
CA2697556250
NM_001195800.2:c.535_536insA