Allele Registry

Canonical Allele Identifier: PA346335

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000157223

ClinVar Variation:

180350

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys94Phe	CA013427 NM_000138.5:c.281G>T