Canonical Allele Identifier: PA645405299
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406346

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1511Tyr
CA16614510
NM_000138.5:c.4532G>A