Allele Registry

Canonical Allele Identifier: PA658691587

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000588339

RCV002530893

ClinVar Variation:

495598

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly1226Val	CA392324369 NM_000138.5:c.3677G>T