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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.[Pro519_Gly529delinsHisThrGlnGlnGlyProSerTrpTrpIleLeu;Tyr532_Trp533delinsAlaSerCys;Asp535_Trp536delinsGlyLeuThr;Thr538delinsGluLeu;Ala540_Lys543delinsProArgSerArg;Gly546_Asn548delinsAla]
CA2813598416
ENST00000558013.5:c.1555_1556insACACCCAA