Allele Registry

Canonical Allele Identifier: PA304154

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181521

RCV002287381

RCV002326983

RCV003996688

ClinVar Variation:

200045

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly1483Arg	CA015077 NM_000138.5:c.4447G>A CA392354293 NM_000138.5:c.4447G>C