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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[His347_Lys352delinsProProThrArgArgPro;Val354_Ile357delinsArgLeuTrp;Tyr359_Phe362delinsProSerPro;Asn364_Asp374delinsSerSerSerProThrGlyThrArgSerGly;Ser376del]
CA645373248
NM_001195799.2:c.1035_1039dup