Allele Registry

Canonical Allele Identifier: PA304294

Gene: FBN1 HGNC NCBI

ClinVar Allele:

197595

ClinVar RCV:

RCV000181614

RCV002408786

RCV002517773

RCV004539703

ClinVar Variation:

200120

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2592Tyr	CA017362 NM_000138.5:c.7775G>A