Canonical Allele Identifier: PA2825058397
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2925557
ClinVar RCV Id: RCV003783651

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1380Tyr
CA392320265
NM_000138.5:c.4139G>A