Canonical Allele Identifier: PA2499228813
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1072043
ClinVar RCV Id: RCV001384661

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1934Trp
CA392340217
NM_000138.5:c.5802T>G