Allele Registry

Canonical Allele Identifier: PA321771

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000197316

RCV003525879

ClinVar Variation:

213395

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Glu1036Lys	CA321770 NM_001999.4:c.3106G>A