Canonical Allele Identifier: PA2825060009
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1804563
ClinVar RCV Id: RCV002469864
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr2508Ile
CA058735
NM_000138.5:c.7523C>T