Canonical Allele Identifier: PA2825058483
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3067747
ClinVar RCV Id: RCV003993436

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1432His
CA392317682
NM_000138.5:c.4294G>C