Canonical Allele Identifier: PA658660258
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457211
ClinVar RCV Id: RCV000550317 RCV002314922
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys145Arg
CA392446450
NM_000138.5:c.433T>C