Allele Registry

Canonical Allele Identifier: PA304262

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181591

RCV003765118

ClinVar Variation:

200104

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Trp2371Arg	CA017020 NM_000138.5:c.7111T>C CA392329727 NM_000138.5:c.7111T>A