Allele Registry

Canonical Allele Identifier: PA658693992

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000587931

RCV002530898

RCV004002414

ClinVar Variation:

495660

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asn2861Ile	CA392318457 NM_000138.5:c.8582A>T