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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Leu311_Ala312delinsPro;Trp315_Leu327delinsProGlnGlnHisLeuLeuAspArgLeuCysPro;Thr329_Lys336delinsHisCysLeuCysCysGlyTyrGln;Val338_Phe344delinsArgGluGluGluAsnValIleGln]
CA2497030064
ENST00000455727.6:c.930_944delinsTCCAGTA