Allele Registry

Canonical Allele Identifier: PA304280

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181604

RCV000536239

RCV003993866

RCV003996698

ClinVar Variation:

200114

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Lys2510Arg	CA017236 NM_000138.5:c.7529A>G