Canonical Allele Identifier: PA2825060457
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1928415
ClinVar RCV Id: RCV002614521

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser2833Gly
CA392318798
NM_000138.5:c.8497A>G