Allele Registry

Canonical Allele Identifier: PA304026

Gene: FBN1 HGNC NCBI

ClinVar Allele:

197788

ClinVar RCV:

RCV000181439

RCV001063331

RCV001178814

ClinVar Variation:

199976

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg565Gln	CA012475 NM_000138.5:c.1694G>A