Allele Registry

Canonical Allele Identifier: PA259626

Gene: FBN1 HGNC NCBI

ClinVar Allele:

38651

ClinVar RCV:

RCV000022543

RCV000022544

RCV002513168

ClinVar Variation:

29696

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Tyr1699Cys	CA015621 NM_000138.5:c.5096A>G