Canonical Allele Identifier: PA645405854
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423987
ClinVar RCV Id: RCV000486336

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2038Gly
CA16619946
NM_000138.5:c.6112T>G