Allele Registry

Canonical Allele Identifier: PA645406287

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000492809

RCV000663939

RCV001851355

ClinVar Variation:

429595

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2406Tyr	CA392328826 NM_000138.5:c.7217G>A