Canonical Allele Identifier: PA304254
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200100

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg2335Trp
CA016924
NM_000138.5:c.7003C>T