Canonical Allele Identifier: PA658692630
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 493158
ClinVar RCV Id: RCV000585051 RCV000805754 RCV001331013 RCV002315879
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2230Tyr
CA392333422
NM_000138.5:c.6689G>A