Allele Registry

Canonical Allele Identifier: PA131185

Gene: FBN1 HGNC NCBI

ClinVar Allele:

51518

ClinVar RCV:

RCV000035187

RCV001343735

RCV003528139

RCV003996188

ClinVar Variation:

42348

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asn1369Ser	CA014768 NM_000138.5:c.4106A>G