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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[His261_Val268delinsProHisGluGlyLeuGlnGlyCys;Ser270_Tyr273delinsLeuHisArg;Phe275_Val282delinsProLeuLeuHisGlnProAla;Lys284_Leu287delinsGlyGlnGluAsp;Arg289_Ser290delinsAlaGlyProGlu]
CA645373249
ENST00000545707.5:c.781dup