Canonical Allele Identifier: PA658812587
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 523041

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Ser679Phe
CA3395669
NM_001999.4:c.2036C>T