Canonical Allele Identifier: PA2825058379
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1802115
ClinVar RCV Id: RCV002464934

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1363Asn
CA392320397
NM_000138.5:c.4087G>A