Canonical Allele Identifier: PA304238
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200090
ClinVar RCV Id: RCV000181573 RCV001069452
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2217Tyr
CA016598
NM_000138.5:c.6650G>A