Allele Registry

Canonical Allele Identifier: PA2499228907

Gene: FBN1 HGNC NCBI

ClinVar Allele:

1032062

ClinVar RCV:

RCV001342328

RCV001526229

RCV001836989

RCV004005178

ClinVar Variation:

1038944

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Ile971Val	CA049346 NM_000138.5:c.2911A>G