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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.[Ser416_Asn423delinsLeuLysHisArgCysGlnArg;Gly425_Leu431delinsGlnPro;Glu434_Ala438del;Pro440_Ser442del;Ala444_Phe446delinsGlyGly]
CA10585597
ENST00000455727.6:c.1245_1249del