Canonical Allele Identifier: PA2825059234
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773333
ClinVar RCV Id: RCV003528016
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1969Met
CA392339942
NM_000138.5:c.5906G>T