Allele Registry

Canonical Allele Identifier: PA281866

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181490

RCV000231311

RCV000763972

RCV001177079

RCV002281720

RCV003996127

ClinVar Variation:

36130

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asn28Ser	CA017720 NM_000138.5:c.83A>G