Canonical Allele Identifier: PA658800824
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527152
ClinVar RCV Id: RCV000631921 RCV000663836
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1977Tyr
CA392339879
NM_000138.5:c.5930G>A