Canonical Allele Identifier: PA304010
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199967
ClinVar RCV Id: RCV000181428 RCV002390451
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys474Tyr
CA012140
NM_000138.5:c.1421G>A