Allele Registry

Canonical Allele Identifier: PA304098

Gene: FBN1 HGNC NCBI

ClinVar Allele:

197737

ClinVar RCV:

RCV000181480

RCV002517771

ClinVar Variation:

200013

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly1058Val	CA013848 NM_000138.5:c.3173G>T