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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.[Val491Tyr;Trp493_Asp495delinsGlyGln;Ile497_Ile501delinsSerSerThrLysPro;Ala504_Leu507delinsValPro;Gly509Ala;Asp511Gln;Asn513_Asn518delinsProMetSerThrCysTrp;Leu520delinsLysThrTyr]
CA891844319
XM_011528011.1:c.1470del