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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.[Gly186_Tyr188del;Gln191_Asp193delinsThrCys;Ser195_Ser198delinsLysGlyThrVal;Phe200_Leu205delinsProAlaArgPro;Gly207_His211del;Trp214_Arg215delinsThrAla]
CA10584986
ENST00000558013.5:c.557del