Canonical Allele Identifier: PA2825058392
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3069692
ClinVar RCV Id: RCV004008236
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.His1372Tyr
CA392320326
NM_000138.5:c.4114C>T