Allele Registry

Canonical Allele Identifier: PA277640

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000201287

RCV001186227

RCV001297613

RCV001561954

RCV002228779

RCV002505229

RCV003995647

ClinVar Variation:

190266

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg516Gln	CA044927 NM_000138.5:c.1547G>A