Canonical Allele Identifier: PA645404678
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 225356

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala1015Thr
CA049620
NM_000138.5:c.3043G>A