Allele Registry

Canonical Allele Identifier: PA304170

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181531

RCV000226053

RCV000586729

RCV000765220

RCV000778032

RCV003996692

RCV004539701

ClinVar Variation:

200054

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Met1576Thr	CA015377 NM_000138.5:c.4727T>C