Allele Registry

Canonical Allele Identifier: PA658825913

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000663639

ClinVar Variation:

549164

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1140Phe	CA392326365 NM_000138.5:c.3419G>T