Canonical Allele Identifier: PA2825058258
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1735367
ClinVar RCV Id: RCV002355413 RCV004017925
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1278Ser
CA392323555
NM_000138.5:c.3833G>C
CA392323565
NM_000138.5:c.3832T>A