Allele Registry

Canonical Allele Identifier: PA658661253

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000522487

RCV000632028

RCV000680520

RCV001188647

RCV003226317

ClinVar Variation:

450683

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Met2273Ile	CA057444 NM_000138.5:c.6819G>A CA392332251 NM_000138.5:c.6819G>T CA392332258 NM_000138.5:c.6819G>C