Allele Registry

Canonical Allele Identifier: PA645405279

Gene: FBN1 HGNC NCBI

ClinVar Allele:

242070

ClinVar RCV:

RCV001379844

ClinVar Variation:

237092

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1485Ser	CA10583246 NM_000138.5:c.4454G>C CA392354258 NM_000138.5:c.4453T>A