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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.[Thr195_Cys196delinsArgVal;Gln198_Asn202delinsGlySerArgHis;Glu204_Cys211delinsGlnProAlaLeuArg;Glu213Pro;Phe215_Gln216delinsGlyTrp;Asp218_Cys224delinsGlnValProVal]
CA2695238674
ENST00000455727.6:c.565_583dup