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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.[Trp315_His317delinsGly;Asn319_Trp322delinsThrAla;Asp324del;Val326_Gly328delinsThrGlyPro;Val330Leu;Val332Trp;Asp334_Lys339delinsLeuSerLeuLeu;Lys341_Phe344delinsIleProArgAla]
CA916081221
ENST00000455727.6:c.943del