Canonical Allele Identifier: PA2825057125
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2152242
ClinVar RCV Id: RCV003061614
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Trp366Ser
CA392347366
NM_000138.5:c.1097G>C