Allele Registry

Canonical Allele Identifier: PA645403929

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000489912

RCV001182997

RCV002481550

RCV002527022

RCV004003422

ClinVar Variation:

426283

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Pro274His	CA392352445 NM_000138.5:c.821C>A