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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.[Trp44_Ser49delinsCysGlySerAlaMetAla;Glu51_Glu58delinsLeuSerAlaArgMetAlaLeuMet;Gln60_Thr62delinsProArgArgArgAla;Val66_Ser70delinsProAlaAsnPro;Asp72_Phe73delinsThrSer]
CA2695223178
NM_001195798.2:c.130_131dup