Canonical Allele Identifier: PA2499228907
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1038944
ClinVar RCV Id: RCV001342328 RCV001526229 RCV001836989 RCV004005178
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile971Val
CA049346
NM_000138.5:c.2911A>G