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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Ser580_Ile585delinsProAsnPheThrPro;Ser587_Gly592delinsGlnAlaSerMetSerThr;Asn594_Glu602delinsAlaThrGlyArgProSerTrpArgMet;Leu605_Phe609delinsGlyTrpProThrPro]
CA10585593
ENST00000558518.6:c.1737del