Allele Registry

Canonical Allele Identifier: PA304112

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181491

RCV000818040

RCV002245984

ClinVar Variation:

200020

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asp1199Gly	CA014349 NM_000138.5:c.3596A>G