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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526313.1:p.[Leu507_Gly509del;Asp511Gln;Asn513_Asn518delinsProMetSerThrCysTrp;Leu520_Leu527delinsLysThrTyrCysProGlnArgIleTrp;His529_Leu531delinsSerSerThr;Gln533Ser;Arg535_Gly536delinsSerGlnGluGlu]
CA2695238660
XM_011528011.1:c.1519del