Allele Registry

Canonical Allele Identifier: PA319741

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000195111

RCV000331925

RCV000659617

RCV001573307

RCV002277454

RCV002310752

ClinVar Variation:

210996

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.His1381Asn	CA319740 NM_001999.4:c.4141C>A