Allele Registry

Canonical Allele Identifier: PA658661245

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000527434

RCV000590209

RCV000663904

RCV002245996

ClinVar Variation:

457252

549370

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asn2267Lys	CA392332416 NM_000138.5:c.6801C>G CA392332418 NM_000138.5:c.6801C>A