Canonical Allele Identifier: PA658800789
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 502437
ClinVar RCV Id: RCV000594744 RCV001867991 RCV002483657 RCV004002467
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr1839Phe
CA055100
NM_000138.5:c.5516A>T