Canonical Allele Identifier: PA322306
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213423
ClinVar RCV Id: RCV000197843 RCV000487809 RCV000581293 RCV000469864 RCV002277537 RCV002310791 RCV002277536
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Ile2316Phe
CA322305
NM_001999.4:c.6946A>T