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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.[Val45_Gly48delinsSerAlaMetAlaAlaLeu;Glu51_Gly55delinsArgMetAlaLeuMet;Asp57_Thr62delinsProArgArgArgAla;Val66_Ser70delinsProAlaAsnPro;Asp72_Ser74delinsThrSerAla]
CA2497030062
NM_000527.5:c.133del