Allele Registry

Canonical Allele Identifier: PA131191

Gene: FBN1 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

51526

ClinVar RCV:

RCV000035195

RCV000515216

RCV000536927

RCV000663715

RCV000770669

RCV001119299

RCV001119300

RCV001119301

RCV001121319

RCV001121320

RCV001711363

ClinVar Variation:

42356

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Val1436Met	CA014927 NM_000138.5:c.4306G>A