Allele Registry

Canonical Allele Identifier: PA304240

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181576

RCV000663893

RCV000801586

RCV002362929

ClinVar Variation:

200091

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Pro2233Ser	CA016658 NM_000138.5:c.6697C>T