Allele Registry

Canonical Allele Identifier: PA346349

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000157231

RCV001850179

ClinVar Variation:

180357

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Phe1954Cys	CA016122 NM_000138.5:c.5861T>G