Canonical Allele Identifier: PA645404150
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426255

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly585Arg
CA392340506
NM_000138.5:c.1753G>C
CA392340510
NM_000138.5:c.1753G>A