Canonical Allele Identifier: PA282257
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42391
ClinVar RCV Id: RCV000035233 RCV000781368 RCV001852713
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1916Tyr
CA016026
NM_000138.5:c.5747G>A