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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Ile751_Leu753delinsMetSerSer;Ile755_Leu763delinsSerCysSerSerSerSerPheAlaTrp;Val765_Arg773delinsSerSerPheTyrGlyArgThrGlyGly;Lys775_Asn781delinsArgThrSerThrAlaSer]
CA645372643
ENST00000535915.5:c.2253del