Canonical Allele Identifier: PA915959685
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 647282

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gln1376Arg
CA392320294
NM_000138.5:c.4127A>G