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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Ser586_Asn591delinsGlnAlaSerMetSerThr;Gly593_Glu602delinsAlaThrGlyArgProSerTrpArgMet;Leu605_Phe609delinsGlyTrpProThrPro;Leu611_Glu615delinsProTrpProSerLeuArg]
CA10585602
NM_000527.5:c.1756del