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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Val268_Ile271delinsArgLeuTrp;Tyr273_Phe276delinsProSerPro;Asn278_Met285delinsSerSerSerProThrGly;Leu287_Asp288del;Glu291_Ile296delinsGlyArg]
CA2573155736
NM_001195803.2:c.796_800dup