Canonical Allele Identifier: PA322011
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213299
ClinVar RCV Id: RCV000197546 RCV001853145
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Glu1049Gln
CA322010
NM_001999.4:c.3145G>C