Canonical Allele Identifier: PA2573163200
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1347967

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1356Arg
CA392320445
NM_000138.5:c.4066G>C
CA392320446
NM_000138.5:c.4066G>A