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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Ile755_Leu763delinsSerCysSerSerSerSerPheAlaTrp;Val765_Arg773delinsSerSerPheTyrGlyArgThrGlyGly;Lys775_Asn784delinsArgThrSerThrAlaSerThrLeuThr]
CA10585835
NM_001195799.2:c.2262del