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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.[Lys182_Glu188del;Cys190_Pro197del;Glu199_Ser211del;Gln213_Arg216del]
CA645509264
NM_001195799.2:c.546_553del