Canonical Allele Identifier: PA295838
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 179765
ClinVar RCV Id: RCV000156563
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys981Ser
CA013576
NM_000138.5:c.2942G>C
CA392329605
NM_000138.5:c.2941T>A