Canonical Allele Identifier: PA2825060469
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2203217
ClinVar RCV Id: RCV002651569
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu2841Asp
CA060126
NM_000138.5:c.8523A>T
CA392318681
NM_000138.5:c.8523A>C