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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.[Tyr336_Glu337delinsCysAla;Leu339_Cys340delinsAla;Asp342_Asp360delinsThrAlaSerSerTrpTrpProSerGluAspAlaLysIleSerMetSerValArgIle;Asp362_Gln366delinsThrProAlaAlaSer]
CA2695228139
NM_000527.5:c.1007_1010del