Allele Registry

Canonical Allele Identifier: PA658800568

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000663524

RCV001374793

RCV001384614

RCV002313282

ClinVar Variation:

519800

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly753Val	CA392335652 NM_000138.5:c.2258G>T