Allele Registry

Canonical Allele Identifier: PA295223

Gene: FBN1 HGNC NCBI

ClinVar Allele:

171171

ClinVar RCV:

RCV000148490

RCV001189650

RCV003764895

ClinVar Variation:

161236

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Ser2832Gly	CA017789 NM_000138.5:c.8494A>G