Canonical Allele Identifier: PA658800733
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519692
ClinVar RCV Id: RCV001220153 RCV002246002 RCV002314296
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1530Pro
CA392353177
NM_000138.5:c.4589G>C