Canonical Allele Identifier: PA645464890
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 388711
ClinVar RCV Id: RCV000426400 RCV000659619 RCV000799857 RCV002279203 RCV002328978
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg1433His
CA3395008
NM_001999.4:c.4298G>A