Canonical Allele Identifier: PA353637
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222616
ClinVar RCV Id: RCV000208125
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Leu2780Pro
CA353635
NM_000138.5:c.8339T>C