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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453346.1:p.[Ile355_Gly374delinsAlaLysMetArgArg;Lys376_Cys377delinsArg;Cys379_Gln384del]
CA916084119
ENST00000558013.5:c.1060_1060+1insATGCGAAGATGCGAAG