Canonical Allele Identifier: PA322232
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213401
ClinVar RCV Id: RCV000197758 RCV000531948 RCV002363007
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Ser1269Gly
CA322231
NM_001999.4:c.3805A>G