Allele Registry

Canonical Allele Identifier: PA645404861

Gene: FBN1 HGNC NCBI

ClinVar Allele:

258891

ClinVar RCV:

RCV000246794

RCV000770674

RCV003476878

ClinVar Variation:

263660

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1153Arg	CA10587839 NM_000138.5:c.3457T>C