Canonical Allele Identifier: PA645377112
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251439
ClinVar RCV Id: RCV000237305
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gln254His
CA10585118
NM_000527.5:c.762G>T
CA404079854
NM_000527.5:c.762G>C