Canonical Allele Identifier: PA2825059622
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1755155
ClinVar RCV Id: RCV002377924
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2245Arg
CA392333194
NM_000138.5:c.6733T>C