Canonical Allele Identifier: PA324675
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213284
ClinVar RCV Id: RCV000200116 RCV001151277 RCV002415837 RCV003401065
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Thr700Ile
CA324674
NM_001999.4:c.2099C>T