Canonical Allele Identifier: PA2580105987
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1699624
ClinVar RCV Id: RCV002273481
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro600Leu
CA392340299
NM_000138.5:c.1799C>T