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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453346.1:p.[Val506_Asn515delinsGlyGluGluGluAsnValIleGln;Ser517_Arg520delinsGluArgLeuGln;Ile522_Thr534delinsLysGlyHisArgGlyGlySerCysSerTrpLeuHisValLeu]
CA2499225321
ENST00000558013.5:c.1516dup