Allele Registry

Canonical Allele Identifier: PA658689840

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000588574

RCV000663684

RCV000692837

RCV001090827

ClinVar Variation:

495602

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys134Tyr	CA392446521 NM_000138.5:c.401G>A