Canonical Allele Identifier: PA658825955
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549211
ClinVar RCV Id: RCV000663698 RCV000821492
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Met1384Thr
CA392320218
NM_000138.5:c.4151T>C