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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.[Gly205_Lys222delinsAlaThrSerAlaSerValArgLysAlaSerSerTrpThrProThrArgArgPro;Cys224_Gly228delinsArgLeuTrpAlaPro;Ile230_Phe235delinsProThrSerSerSer]
CA2573050594
NM_001195800.2:c.614_617del