Canonical Allele Identifier: PA282231
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42372
ClinVar RCV Id: RCV000035213 RCV000483918
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1646Tyr
CA015476
NM_000138.5:c.4937G>A