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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.[Asn405_Met412delinsThrGly;Leu414_Asp415del;Glu418_Leu426delinsGly;Asn428_Thr434del]
CA2582474639
NM_001195798.2:c.1212del
CA2830773962
NM_001195798.2:c.1214del