Canonical Allele Identifier: PA2825058435
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1738692
ClinVar RCV Id: RCV002327903
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1402Trp
CA392319861
NM_000138.5:c.4206T>G