Canonical Allele Identifier: PA2573163386
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1325429
ClinVar RCV Id: RCV002246041 RCV002359255 RCV003772160
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1952Val
CA392340055
NM_000138.5:c.5855G>T