Canonical Allele Identifier: PA2825059080
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2926147
ClinVar RCV Id: RCV003786433
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile1859Thr
CA392342302
NM_000138.5:c.5576T>C