Allele Registry

Canonical Allele Identifier: PA325436

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000200857

RCV000352887

RCV001001181

ClinVar Variation:

213414

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Pro1816Leu	CA325435 NM_001999.4:c.5447C>T