Allele Registry

Canonical Allele Identifier: PA286518

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000114817

ClinVar Variation:

126960

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys129Gly	CA014604 NM_000138.5:c.385T>G