Allele Registry

Canonical Allele Identifier: PA131261

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000029789

RCV000035286

RCV000777718

RCV001034845

RCV001588830

ClinVar Variation:

36126

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asn2740Ser	CA017627 NM_000138.5:c.8219A>G