Allele Registry

Canonical Allele Identifier: PA295231

Gene: FBN1 HGNC NCBI

ClinVar Allele:

171172

ClinVar RCV:

RCV000148495

RCV001040428

RCV001582618

RCV001804856

ClinVar Variation:

161240

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg2694Gln	CA017551 NM_000138.5:c.8081G>A