Allele Registry

Canonical Allele Identifier: PA259630

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000022548

RCV001262145

RCV003764623

ClinVar Variation:

29699

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Tyr1696Cys	CA015611 NM_000138.5:c.5087A>G