Canonical Allele Identifier: PA2826215570
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3689
ClinVar RCV Id: RCV000030131 RCV000313287 RCV000775084 RCV002415393
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys499Tyr
CA023621
NM_001195800.2:c.1496G>A