Canonical Allele Identifier: PA658693704
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495657
ClinVar RCV Id: RCV000588630 RCV004002411
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2695Arg
CA392321560
NM_000138.5:c.8083G>A
CA392321561
NM_000138.5:c.8083G>C