Canonical Allele Identifier: PA2826214459
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183099
ClinVar RCV Id: RCV000161970 RCV000497066 RCV001176039
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.His117Tyr
CA023780
NM_001195800.2:c.349C>T