Canonical Allele Identifier: PA2825058256
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2098867
ClinVar RCV Id: RCV003019324
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1278Tyr
CA392323557
NM_000138.5:c.3833G>A