Canonical Allele Identifier: PA658690451
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495563
ClinVar RCV Id: RCV000587166 RCV000663505 RCV001070382
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys617Tyr
CA392339186
NM_000138.5:c.1850G>A