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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Trp4_Ala19delinsGlyAlaGlyAsnCysAlaGlyProSerProCysSerSerProArgArg;Thr21_Gly24delinsLeuGlnTrpAlaThr;Arg26_Cys27delinsAlaLys;Arg29_Phe32delinsThrSer]
CA10576266
ENST00000455727.6:c.6del