Canonical Allele Identifier: PA353682
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222600
ClinVar RCV Id: RCV000208445 RCV000534760
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser113Cys
CA353680
NM_000138.5:c.338C>G