Canonical Allele Identifier: PA304379
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200189
ClinVar RCV Id: RCV000181696 RCV000253306 RCV000803899 RCV000663811
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile1909Thr
CA016007
NM_000138.5:c.5726T>C