Allele Registry

Canonical Allele Identifier: PA282300

Gene: FBN1 HGNC NCBI

ClinVar Allele:

51616

ClinVar RCV:

RCV000035292

ClinVar Variation:

42446

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gln2867Pro	CA017835 NM_000138.5:c.8600A>C