Canonical Allele Identifier: PA658812572
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 519822
ClinVar RCV Id: RCV001227242 RCV002313303
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg518Gln
CA3395775
NM_001999.4:c.1553G>A