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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Asn645_Ser648delinsLysProThrVal;Glu650_Asn657delinsArgGlyTyrGlySer;Thr659Pro;Arg662_Cys667delinsHisProAlaLysArgSer;Arg669_Thr671del;Ser673_Asn674delinsVal]
CA10585684
ENST00000557933.5:c.1934dup