Allele Registry

Canonical Allele Identifier: PA304369

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181691

ClinVar Variation:

200184

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1223Phe	CA014439 NM_000138.5:c.3668G>T