Canonical Allele Identifier: PA658800669
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519762
ClinVar RCV Id: RCV001770550 RCV001868124 RCV002314353 RCV002477356
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile1359Val
CA051965
NM_000138.5:c.4075A>G