Allele Registry

Canonical Allele Identifier: PA658670767

Gene: FBN2 HGNC NCBI

ClinVar Allele:

443663

ClinVar RCV:

RCV000522353

RCV003766960

ClinVar Variation:

451727

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Ser2401Asn	CA3394180 NM_001999.4:c.7202G>A