Canonical Allele Identifier: PA658660650
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457190
ClinVar RCV Id: RCV000555743 RCV001177886 RCV001197236 RCV001702671 RCV003323592 RCV004003783
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1049Ser
CA049951
NM_000138.5:c.3145G>A