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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.[Thr342_Asn347delinsAsnValIleGln;Ser349_Arg352delinsGluArgLeuGln;Ile354_His360delinsLysGlyHisArgGly;Phe362_Tyr364delinsSerCysSer;Thr366_Pro371delinsLeuHisValLeuAsp]
CA2695228117
ENST00000455727.6:c.1024dup