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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.[Ser412_Ile417delinsProAsnPheThrPro;Ser419_Gly424delinsGlnAlaSerMetSerThr;Asn426_Glu434delinsAlaThrGlyArgProSerTrpArgMet;Leu437_Phe441delinsGlyTrpProThrPro]
CA10585593
ENST00000455727.6:c.1233del