Allele Registry

Canonical Allele Identifier: PA303978

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000659521

RCV001088772

RCV001183737

RCV001721134

RCV004537522

ClinVar Variation:

199947

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asp978Glu	CA013568 NM_000138.5:c.2934C>G CA392329662 NM_000138.5:c.2934C>A