Canonical Allele Identifier: PA2825058625
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2137692
ClinVar RCV Id: RCV003064268

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1528Asn
CA392353278
NM_000138.5:c.4582G>A