Canonical Allele Identifier: PA658825878
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549116
ClinVar RCV Id: RCV000663584
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys950Tyr
CA392330411
NM_000138.5:c.2849G>A