Canonical Allele Identifier: PA304168
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200053
ClinVar RCV Id: RCV000181530 RCV003996691
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser1550Cys
CA015272
NM_000138.5:c.4648A>T