Canonical Allele Identifier: PA658661318
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449435
ClinVar RCV Id: RCV000519554 RCV001061535
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2455Tyr
CA392327954
NM_000138.5:c.7364G>A