Canonical Allele Identifier: PA2825060393
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2935651

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala2765Thr
CA269518601
NM_000138.5:c.8293G>A