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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.[Thr221_Lys225delinsArgArgPro;Val227_Ile230delinsArgLeuTrp;Tyr232_Phe235delinsProSerPro;Asn237_Met244delinsSerSerSerProThrGly;Leu246_Asp247del;Glu250delinsGlyArg]
CA1139532993
ENST00000455727.6:c.661del