Canonical Allele Identifier: PA2573163227
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1325420
ClinVar RCV Id: RCV002246032
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1402Gly
CA392319894
NM_000138.5:c.4204T>G