Canonical Allele Identifier: PA915959771
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 807245
ClinVar RCV Id: RCV001190577
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr1529Ile
CA392353181
NM_000138.5:c.4586C>T