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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Gly552_Glu561delinsAlaThrGlyArgProSerTrpArgMet;Leu564_Phe568delinsGlyTrpProThrPro;Leu570_Asp575delinsProTrpProSerLeuArgThr;Val577Tyr;Trp579_Asp581delinsGlyGlnIle]
CA10585606
ENST00000535915.5:c.1655del