Canonical Allele Identifier: PA1139673965
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 927858
ClinVar RCV Id: RCV001191422
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile1114Thr
CA269531275
NM_000138.5:c.3341T>C