Canonical Allele Identifier: PA325003
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213312
ClinVar RCV Id: RCV000200431 RCV000228550
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg1195Cys
CA325002
NM_001999.4:c.3583C>T