Allele Registry

Canonical Allele Identifier: PA645464532

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000493208

RCV001068745

ClinVar Variation:

429398

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Ser368Leu	CA3395883 NM_001999.4:c.1103C>T