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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.[Gly713_Thr715del;Gly717_Gly736del;Gly738_Val746delinsTrp;Ala748del]
CA913189007
ENST00000535915.5:c.2136_2154del