Allele Registry

Canonical Allele Identifier: PA645404847

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000243495

RCV001044344

RCV001184767

RCV001658158

RCV003224240

RCV003998948

ClinVar Variation:

255292

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Ala1152Thr	CA050634 NM_000138.5:c.3454G>A