Canonical Allele Identifier: PA282213
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42354
ClinVar RCV Id: RCV000035193 RCV000631934
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1420Tyr
CA014905
NM_000138.5:c.4259G>A