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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Arg751_Pro753delinsGlyCysLeu;Ala755_Thr756delinsPro;Gly758del;Thr760_Met767delinsGly;His769_Gly777delinsProArgTrp;Gly779_Asn780del]
CA645509294
NM_000527.5:c.2251del