Canonical Allele Identifier: PA645406095
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379655
ClinVar RCV Id: RCV000424583 RCV002524849
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2265Tyr
CA16606691
NM_000138.5:c.6794G>A