Allele Registry

Canonical Allele Identifier: PA645404891

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000455893

RCV000587326

RCV000818595

RCV001180575

RCV002278238

RCV002500949

RCV003995705

ClinVar Variation:

263998

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asn1168Ser	CA050971 NM_000138.5:c.3503A>G