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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Asn647Gln;His649_Cys657delinsProLeuAlaGlnValTyrLeuArgLeu;Asp659del;Met661_Leu663delinsArgHisAla;Arg665_Cys670delinsGlyGlnGlyHisGluGlu;Thr672_Ala676delinsProHisArgGly]
CA038385
ENST00000535915.5:c.1938dup