Canonical Allele Identifier: PA304371
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200185

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu1325Ala
CA014669
NM_000138.5:c.3974A>C