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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.[Val457del;Val459_Thr469delinsLeu;Phe471del;Glu473_Lys477delinsIle;Ile481_Val486del]
CA2695228115
NM_001195799.2:c.1368del