Canonical Allele Identifier: PA1139677245
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 923954

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp2485Glu
CA058647
NM_000138.5:c.7455T>G
CA392326280
NM_000138.5:c.7455T>A