Canonical Allele Identifier: PA658800790
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519783
ClinVar RCV Id: RCV001584440 RCV002313269 RCV003106002 RCV003889938
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1840Cys
CA055122
NM_000138.5:c.5518C>T