Allele Registry

Canonical Allele Identifier: PA645464689

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000247140

RCV000800520

RCV002446486

RCV003318568

ClinVar Variation:

258510

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Arg788His	CA3395570 NM_001999.4:c.2363G>A