Allele Registry

Canonical Allele Identifier: PA282280

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000035259

ClinVar Variation:

42414

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2307Tyr	CA016837 NM_000138.5:c.6920G>A