Allele Registry

Canonical Allele Identifier: PA645405558

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000437531

ClinVar Variation:

392910

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly1762Val	CA16607804 NM_000138.5:c.5285G>T