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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.[Gly287_Asp293delinsAlaAsnAlaSerProTrpThr;Val295_Glu308delinsSerAlaThrTrpLeuGluThrAlaGlyThrGlyGlnMetAsn;Ile310Ser;Glu312_Cys313delinsSerAla;Thr315_Asn316delinsProThr]
CA645373254
ENST00000558518.6:c.860del