Canonical Allele Identifier: PA645510453
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 439719
ClinVar RCV Id: RCV000506228 RCV001384078 RCV001613330
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1928Tyr
CA392341016
NM_000138.5:c.5783G>A