Allele Registry

Canonical Allele Identifier: PA304357

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181682

RCV000231553

RCV000791430

RCV002453647

ClinVar Variation:

200177

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Glu383Lys	CA011960 NM_000138.5:c.1147G>A