Canonical Allele Identifier: PA645465149
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 350759
ClinVar RCV Id: RCV000274441 RCV000765797 RCV000998425 RCV002436212 RCV002278581
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Ile2792Met
CA3393820
NM_001999.4:c.8376C>G