Allele Registry

Canonical Allele Identifier: PA645405722

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000227015

RCV001388234

RCV002315679

ClinVar Variation:

237100

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1895Arg	CA10583241 NM_000138.5:c.5683T>C