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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.[Val338_Asn347delinsGlyGluGluGluAsnValIleGln;Ser349_Arg352delinsGluArgLeuGln;Ile354_Thr366delinsLysGlyHisArgGlyGlySerCysSerTrpLeuHisValLeu]
CA2499225321
ENST00000455727.6:c.1012dup