Allele Registry

Canonical Allele Identifier: PA658801003

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV002271539

RCV002313263

ClinVar Variation:

519775

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg2776Gly	CA059933 NM_000138.5:c.8326C>G