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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Gly405_His415delinsAlaSerThrGlyLeuThrProAsnPheThrPro;Ile417_Ser418delinsGlnAla;Ile420_Asn426delinsMetSerThrGlyAlaThrGly;Lys428_Glu434delinsProSerTrpArgMet]
CA2573050611
NM_001195800.2:c.1212_1215del