Canonical Allele Identifier: PA658670605
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 458763
ClinVar RCV Id: RCV000556027 RCV002314952
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Cys1246Arg
CA360758140
NM_001999.4:c.3736T>C