Allele Registry

Canonical Allele Identifier: PA645406353

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000480933

RCV000780252

RCV000794952

RCV002310834

ClinVar Variation:

263398

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Glu2570Lys	CA10587791 NM_000138.5:c.7708G>A