Canonical Allele Identifier: PA658826020
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549316
ClinVar RCV Id: RCV000663831 RCV002352081
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1971Tyr
CA392339930
NM_000138.5:c.5912G>A