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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.[Asp178_Arg185delinsMetSerGlyArgSerAlaVal;Leu187_Tyr188del;Gln191_Asp193delinsThrCys;Ser195_Ser198delinsLysGlyThrVal;Phe200_Leu205delinsProAlaArgProSerSer;Gly207delinsThrAla]
CA645509258
ENST00000558518.6:c.532del