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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Ser584_Asn591delinsLeuLysHisArgCysGlnArg;Gly593_Leu599delinsGlnPro;Glu602_Ala606del;Pro608_Ser610del;Ala612_Phe614delinsGlyGly]
CA10585597
ENST00000557933.5:c.1749_1753del