Canonical Allele Identifier: PA645376858
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251362
ClinVar RCV Id: RCV000237208 RCV001376811
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys222Phe
CA10585053
NM_000527.5:c.665G>T