Canonical Allele Identifier: PA180874
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 177856
ClinVar RCV Id: RCV000154494 RCV001170323
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser346Pro
CA011886
NM_000138.5:c.1036T>C