Allele Registry

Canonical Allele Identifier: PA645404685

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000494510

RCV001248380

RCV003444556

ClinVar Variation:

429319

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asp1028Gly	CA392328329 NM_000138.5:c.3083A>G