Canonical Allele Identifier: PA176114
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 163467
ClinVar RCV Id: RCV000150698 RCV002514897
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2170Tyr
CA016539
NM_000138.5:c.6509G>A