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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Asn554_Arg555del;Thr557_Glu562delinsProSerTrpArgMet;Leu565_Phe569delinsGlyTrpProThrPro;Leu571_Asp576delinsProTrpProSerLeuArgThr;Val578Tyr;Trp580_Asp582delinsGlyGln;Ile584_Glu586delinsSerSerThr]
CA2573050613
ENST00000560467.2:c.1662_1668del