Canonical Allele Identifier: PA658800937
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 504529
ClinVar RCV Id: RCV000611583 RCV002498882
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2500Ser
CA269519926
NM_000138.5:c.7498T>A
CA392326027
NM_000138.5:c.7499G>C