Canonical Allele Identifier: PA282195
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42340
ClinVar RCV Id: RCV000035178 RCV002514148 RCV003224116
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys123Tyr
CA014457
NM_000138.5:c.368G>A