Allele Registry

Canonical Allele Identifier: PA304138

Gene: FBN1 HGNC NCBI

ClinVar Allele:

197708

ClinVar RCV:

RCV001170774

RCV001341819

RCV001704866

RCV002485194

RCV003996686

ClinVar Variation:

200038

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Met1384Val	CA014788 NM_000138.5:c.4150A>G