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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.[Ile544del;Ser546_Gly551delinsGlnAlaSerMetSerThr;Asn553_Glu561delinsAlaThrGlyArgProSerTrpArgMet;Leu564_Phe568delinsGlyTrpProThrPro;Leu570_Phe573delinsProTrpProSer]
CA10585599
ENST00000535915.5:c.1629del