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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.[Cys63Val;Ser65_Ser70delinsValCysHisLeuGlnIleArg;Asp72_Cys75delinsLeuGlnLeuTrp;Gly77_Gly91delinsProCysGlnProLeuHisSerSerValLeuGluValArgTrpPro]
CA10584776
ENST00000558013.5:c.185_186insT