Canonical Allele Identifier: PA303986
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199953
ClinVar RCV Id: RCV000181410 RCV000795593 RCV000989312
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2500Tyr
CA017230
NM_000138.5:c.7499G>A