Allele Registry

Canonical Allele Identifier: PA658660555

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000559175

ClinVar Variation:

457180

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Glu913Ala	CA392330886 NM_000138.5:c.2738A>C