Canonical Allele Identifier: PA304258
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200102
ClinVar RCV Id: RCV000181588 RCV000631985 RCV000766957 RCV000659575 RCV001526099
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2351Ser
CA016962
NM_000138.5:c.7051G>A