Allele Registry

Canonical Allele Identifier: PA282288

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000035273

ClinVar Variation:

42428

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Glu2527Ala	CA017263 NM_000138.5:c.7580A>C