Canonical Allele Identifier: PA304200
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200069
ClinVar RCV Id: RCV000181552 RCV001230591
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1934Tyr
CA016083
NM_000138.5:c.5801G>A