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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[His348_Lys353delinsProProThrArgArgPro;Val355_Ile358delinsArgLeuTrp;Tyr360_Phe363delinsProSerPro;Asn365_Asp375delinsSerSerSerProThrGlyThrArgSerGly;Ser377del]
CA645373248
ENST00000560467.2:c.1038_1042dup