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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Asn680_Arg681del;Thr683_Glu688delinsProSerTrpArgMet;Leu691_Phe695delinsGlyTrpProThrPro;Leu697_Asp702delinsProTrpProSerLeuArgThr;Val704Tyr;Trp706_Asp708delinsGlyGln;Ile710_Glu712delinsSerSerThr]
CA2573050613
ENST00000252444.10:c.2040_2046del