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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Ile557_Glu561delinsMetArgMet;Leu564_Phe568delinsGlyTrpProThrPro;Leu570_Asp575delinsProTrpProSerLeuArgThr;Val577Tyr;Trp579_Asp581delinsGlyGln;Ile583_Ile587delinsSerSerThrLysPro]
CA2739276493
ENST00000535915.5:c.1671_1674del