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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Val220_Glu226del;Ile228_Asp233delinsGly;Asp235_Gly247delinsAlaLysMetArgArg;Lys249Arg]
CA2697556250
NM_001195803.2:c.658_659insA