Allele Registry

Canonical Allele Identifier: PA304152

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181520

RCV000465923

RCV001178817

RCV001192802

RCV002500530

RCV003996687

ClinVar Variation:

200044

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asp1479Glu	CA015058 NM_000138.5:c.4437C>G CA392354344 NM_000138.5:c.4437C>A