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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Ser372_Lys377delinsCysCysGlyTyrGln;Val379_Lys380del;Lys382_Asn388delinsGluGluGluAsnValIleGln;Ser390_Arg393delinsGluArgLeuGln;Ile395_Gly402delinsLysGlyHisArgGlyGlySerCysSerTrp]
CA10585481
NM_001195803.2:c.1115_1116del