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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.[Gly676_Pro680delinsProArgAspArgTrp;Arg682_Gln683delinsValTrpArg;Met684_Val685insThrTrpArgGluHisLeuProGly;Val685_Ser686insPro;Glu688_Ala692delinsProArgThrLeuProGluThrSer]
CA2499225335
NM_001195800.2:c.2026_2038del