Canonical Allele Identifier: PA2825060389
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2502816
ClinVar RCV Id: RCV003229489 RCV004009683
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr2761Ala
CA392319937
NM_000138.5:c.8281A>G