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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Pro567_Thr571delinsSerAspAsnVal;Arg573_Leu574del;Gly576_Pro579delinsSerSer;Leu581_His591delinsArgArgCysTrp;Ala593_Gly599del;Gly601_Glu603del;Lys605_Val615del]
CA658799127
ENST00000545707.5:c.1699_1757del
CA2573156041
ENST00000545707.5:c.1698_1756del