Canonical Allele Identifier: PA2499228833
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1071312
ClinVar RCV Id: RCV001383754
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2686Phe
CA392321650
NM_000138.5:c.8057G>T