Allele Registry

Canonical Allele Identifier: PA281838

Gene: FBN1 HGNC NCBI

ClinVar Allele:

44773

ClinVar RCV:

RCV000029771

RCV000769623

RCV001753430

RCV002513250

RCV003234924

ClinVar Variation:

36109

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Ala2324Thr	CA016873 NM_000138.5:c.6970G>A