Allele Registry

Canonical Allele Identifier: PA658692747

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000588390

RCV003767332

ClinVar Variation:

495643

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg2335Gly	CA392330360 NM_000138.5:c.7003C>G