Allele Registry

Canonical Allele Identifier: PA1139677248

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV001219717

ClinVar Variation:

948459

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2489Ser	CA392326195 NM_000138.5:c.7466G>C CA392326199 NM_000138.5:c.7465T>A