Canonical Allele Identifier: PA282292
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42436
ClinVar RCV Id: RCV000035281 RCV000663992 RCV002513354
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2631Tyr
CA017451
NM_000138.5:c.7892G>A