Allele Registry

Canonical Allele Identifier: PA2825057355

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV003062959

RCV004009332

ClinVar Variation:

2144409

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg565Gly	CA392340965 NM_000138.5:c.1693C>G