Canonical Allele Identifier: PA2826214826
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183109
ClinVar RCV Id: RCV000161981 RCV000237472 RCV001211912 RCV001800473 RCV002336376
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ala231Thr
CA023430
NM_001195800.2:c.691G>A