Allele Registry

Canonical Allele Identifier: PA2573163527

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV002236396

RCV002363726

RCV003774684

ClinVar Variation:

1679954

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2258Gly	CA392332714 NM_000138.5:c.6772T>G