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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526312.1:p.[Ser572_His583delinsAsnAlaSerThrGlyLeuThrProAsnPheThrPro;Ile585_Ser586delinsGlnAla;Ile588_Asn594delinsMetSerThrGlyAlaThrGly;Lys596_Glu602delinsProSerTrpArgMet]
CA10576315
XM_011528010.2:c.1715_1719delinsA