Canonical Allele Identifier: PA645405307
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 264314
ClinVar RCV Id: RCV002311132
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1526Tyr
CA10587825
NM_000138.5:c.4577G>A