Allele Registry

Canonical Allele Identifier: PA2825059177

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV004016836

ClinVar Variation:

3073830

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Ile1929Thr	CA055522 NM_000138.5:c.5786T>C