Canonical Allele Identifier: PA321482
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213434
ClinVar RCV Id: RCV000197044 RCV001473209 RCV002277538 RCV003323445
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg126His
CA321481
NM_001999.4:c.377G>A