Canonical Allele Identifier: PA304383
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200191

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu2130Lys
CA016399
NM_000138.5:c.6388G>A