Canonical Allele Identifier: PA100640
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3691
ClinVar RCV Id: RCV000003878 RCV000623885 RCV000775232 RCV000735406 RCV000844738 RCV002362556
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu228Lys
CA023749
NM_000527.5:c.682G>A