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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Ser544_Asn551delinsTyrLeuLysHisArgCysGlnArg;Gly553_Leu559delinsGlnPro;Glu562_Ala566del;Pro568_Ser570del;Ala572_Phe574delinsGlyGly]
CA2830773958
ENST00000560467.2:c.1631_1632del