Canonical Allele Identifier: PA2573163379
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1522965

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu1933Lys
CA392340245
NM_000138.5:c.5797G>A