Canonical Allele Identifier: PA658800595
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519733
ClinVar RCV Id: RCV000780256 RCV001374786 RCV001093337 RCV002314328
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys908Tyr
CA392331594
NM_000138.5:c.2723G>A