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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.[Val227_Ile230delinsTrp;Tyr232_Phe235delinsProSerPro;Asn237_Met244delinsSerSerSerProThrGly;Leu246_Asp247del;Glu250_Pro256delinsGlyArg]
CA10585339
NM_001195800.2:c.678del
CA2695202627
NM_001195800.2:c.679del