Allele Registry

Canonical Allele Identifier: PA126523

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000017884

RCV000663912

ClinVar Variation:

16422

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2307Ser	CA016845 NM_000138.5:c.6920G>C CA392330744 NM_000138.5:c.6919T>A