Allele Registry

Canonical Allele Identifier: PA645404031

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000472023

RCV000659508

RCV001189403

RCV001810947

RCV004000729

ClinVar Variation:

406265

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Pro430Leu	CA044189 NM_000138.5:c.1289C>T