Allele Registry

Canonical Allele Identifier: PA304371

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181692

RCV000659535

RCV000706621

ClinVar Variation:

200185

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Glu1325Ala	CA014669 NM_000138.5:c.3974A>C