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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453696.2:p.[Trp305_Glu308delinsGlyGlnMetAsn;Ile310Ser;Glu312_Cys313delinsSerAla;Gly314_Thr315insPro;Glu317_Asp331delinsAlaTrpThrThrThrAlaAlaValProThrSerAlaMetThr;Lys333_Ile334delinsArg]
CA2695228127
ENST00000559340.2:c.912del