Canonical Allele Identifier: PA295845
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180039
ClinVar RCV Id: RCV000156842 RCV000530465 RCV000781370
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile2118Met
CA016350
NM_000138.5:c.6354C>G