Allele Registry

Canonical Allele Identifier: PA304284

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181606

RCV000659580

RCV000799932

RCV002390452

RCV003114329

ClinVar Variation:

200116

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asn2533Ser	CA017269 NM_000138.5:c.7598A>G