Canonical Allele Identifier: PA2825060414
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070143
ClinVar RCV Id: RCV004010175
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr2788Arg
CA059959
NM_000138.5:c.8363C>G