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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Ile471_Glu475delinsMetArgMet;Leu478_Phe482delinsGlyTrpProThrPro;Leu484_Asp489delinsProTrpProSerLeuArgThr;Val491Tyr;Trp493_Asp495delinsGlyGln;Ile497_Ile501delinsSerSerThrLysPro]
CA2739276493
ENST00000545707.5:c.1413_1416del