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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Trp6_Ala19delinsPheProGlyAsnCysAlaGlyProSerProCysSerSerProArgArg;Thr21_Gly24delinsLeuGlnTrpAlaThr;Arg26_Cys27delinsAlaLys;Arg29_Gln35delinsThrSerSerSerAlaLys]
CA085175
ENST00000558518.6:c.16_17insTTCCT