Canonical Allele Identifier: PA658825971
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549235
ClinVar RCV Id: RCV000663731 RCV001065152 RCV002331298
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu1490Lys
CA392353818
NM_000138.5:c.4468G>A