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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Leu654_Leu658delinsSerSerThr;Gln660Ser;Arg662_Leu672del;Asn674_Cys677del;Tyr679_Pro683delinsGluGlu]
CA2573320554
NM_001195798.2:c.1959del