Canonical Allele Identifier: PA2825179572
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2843694
ClinVar RCV Id: RCV003742085
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg458_Gly461delinsSer
CA915952546
NM_000527.5:c.1374_1382del