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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Val592_Asn601delinsGlyGluGluGluAsnValIleGln;Ser603_Arg606delinsGluArgLeuGln;Ile608_Thr620delinsLysGlyHisArgGlyGlySerCysSerTrpLeuHisValLeu]
CA2499225321
ENST00000252444.10:c.1774dup