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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.[Glu650_Pro661del;Gly663_Asn665delinsIle;Cys667_Arg669delinsPheSerSer;Leu672del;Asn674_Tyr679delinsProSerGlnGluGlu]
CA2695228164
ENST00000557933.5:c.1948del