Allele Registry

Canonical Allele Identifier: PA645465118

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000414132

RCV003640889

ClinVar Variation:

373613

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Gly2553Ala	CA3394055 NM_001999.4:c.7658G>C