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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.[Gly573_His583delinsAlaSerThrGlyLeuThrProAsnPheThrPro;Ile585_Ser586delinsGlnAla;Ile588_Asn594delinsMetSerThrGlyAlaThrGly;Lys596_Glu602delinsProSerTrpArgMet]
CA2573050611
ENST00000557933.5:c.1716_1719del