Allele Registry

Canonical Allele Identifier: PA304008

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181427

RCV000697626

RCV001178813

RCV002500528

RCV003996674

ClinVar Variation:

199966

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg429Gln	CA012066 NM_000138.5:c.1286G>A