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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.[Arg253_Val268delinsValThr;Cys270_Val271del;Val273Met;Leu275_Cys284delinsAlaArgThr]
CA2573050586
NM_001195798.2:c.756_762del