Canonical Allele Identifier: PA645403969
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 264158
ClinVar RCV Id: RCV000804876 RCV002311083
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys377Arg
CA10587868
NM_000138.5:c.1129T>C