Allele Registry

Canonical Allele Identifier: PA658660848

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000520474

RCV000795383

RCV002245993

ClinVar Variation:

449441

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1284Tyr	CA392322568 NM_000138.5:c.3851G>A