Canonical Allele Identifier: PA304391
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200195
ClinVar RCV Id: RCV000181702 RCV001062234
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr2167Pro
CA016525
NM_000138.5:c.6499A>C