Allele Registry

Canonical Allele Identifier: PA658691344

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000588454

RCV001027821

RCV002246001

RCV002530892

ClinVar Variation:

495590

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1138Ser	CA392326397 NM_000138.5:c.3413G>C CA392326404 NM_000138.5:c.3412T>A