Allele Registry

Canonical Allele Identifier: PA304395

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181704

RCV000250909

RCV001183741

RCV002516841

RCV003996705

ClinVar Variation:

200197

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg2311His	CA016860 NM_000138.5:c.6932G>A