Allele Registry

Canonical Allele Identifier: PA304080

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181468

RCV000631996

RCV000780231

RCV003528145

RCV003996678

ClinVar Variation:

200004

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Val916Met	CA013401 NM_000138.5:c.2746G>A