Allele Registry

Canonical Allele Identifier: PA645404157

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000418820

ClinVar Variation:

381934

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly592Cys	CA16606976 NM_000138.5:c.1774G>T