Canonical Allele Identifier: PA353662
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222607
ClinVar RCV Id: RCV000208355

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser1936Gly
CA353660
NM_000138.5:c.5806A>G