Canonical Allele Identifier: PA645405591
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263568
ClinVar RCV Id: RCV000253774 RCV000663780 RCV000781361 RCV003765551
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1791Tyr
CA10587814
NM_000138.5:c.5372G>A