Canonical Allele Identifier: PA2826215739
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252259
ClinVar RCV Id: RCV000237861 RCV000455106 RCV001186236
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Thr574Ile
CA039172
NM_001195800.2:c.1721C>T