Allele Registry

Canonical Allele Identifier: PA645405873

Gene: FBN1 HGNC NCBI

ClinVar Allele:

242062

ClinVar RCV:

RCV000234135

ClinVar Variation:

237101

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly2091Asp	CA10583240 NM_000138.5:c.6272G>A