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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Met1Leu;Pro3_Leu8delinsLeuGluIleAlaLeuAsp;Trp10_Val12delinsArgLeu;Leu14_Asp25delinsProArgArgGlyGlyAspCysSerGlyArgGlnMet;Cys27_Glu28delinsLysLys;Asn30_Phe32delinsValPro]
CA2695238675
ENST00000557933.5:c.1_8del