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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.[Val45_Ser49delinsGlySerAlaMetAla;Glu51_Glu58delinsLeuSerAlaArgMetAlaLeuMet;Gln60_Thr62delinsProArgArgArgAla;Val66_Ser70delinsProAlaAsnPro;Asp72_Ser74delinsThrSerAla]
CA10584763
NM_001195798.2:c.132_133dup