Canonical Allele Identifier: PA320226
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213357
ClinVar RCV Id: RCV000195847 RCV001853147
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Thr2444Ile
CA320225
NM_001999.4:c.7331C>T