Canonical Allele Identifier: PA658660309
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 451847

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Lys278Glu
CA059948
NM_000138.5:c.832A>G