Canonical Allele Identifier: PA2825059206
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070406
ClinVar RCV Id: RCV004012916

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Val1951Ala
CA392340063
NM_000138.5:c.5852T>C