Canonical Allele Identifier: PA235486
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183138
ClinVar RCV Id: RCV000162023 RCV000241875 RCV000237576 RCV001082380 RCV002326922
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala391Thr
CA023426
NM_000527.5:c.1171G>A