Allele Registry

Canonical Allele Identifier: PA658692246

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000585910

RCV000663800

ClinVar Variation:

495624

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly1863Arg	CA392342165 NM_000138.5:c.5587G>C CA392342167 NM_000138.5:c.5587G>A