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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Arg164_Cys190delinsLeuSerThrAlaAlaPheLeuSerSerGlyGlyAlaMetAlaLysTrpThrAlaThrThrAlaGlnThrSerLysAlaVal;Lys193Arg]
CA10654840
ENST00000252444.10:c.491del