Allele Registry

Canonical Allele Identifier: PA645404247

Gene: FBN1 HGNC NCBI

ClinVar Allele:

400407

487610

ClinVar RCV:

RCV000587588

RCV001385097

ClinVar Variation:

406351

495566

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys639Ser	CA16614529 NM_000138.5:c.1915T>A CA392339043 NM_000138.5:c.1916G>C