Canonical Allele Identifier: PA645405079
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 429778
ClinVar RCV Id: RCV000492802

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1380Arg
CA392320268
NM_000138.5:c.4138T>C