Allele Registry

Canonical Allele Identifier: PA282225

Gene: FBN1 HGNC NCBI

ClinVar Allele:

51534

ClinVar RCV:

RCV000035204

RCV001213084

ClinVar Variation:

42364

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1511Arg	CA015175 NM_000138.5:c.4531T>C