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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.[Gln722_Val727del;Leu729_Val736del;Thr738_Gln739del;Thr741_Arg744del;Val746del;Asp748_Thr749del;Arg751Gly]
CA2695228316
NM_001195798.2:c.2164del