Canonical Allele Identifier: PA2825059327
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1751735
ClinVar RCV Id: RCV002360283 RCV003098147
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2040Trp
CA392338159
NM_000138.5:c.6120T>G