Canonical Allele Identifier: PA322117
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213378
ClinVar RCV Id: RCV000197656 RCV001241938 RCV002372170
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Glu2901Lys
CA322116
NM_001999.4:c.8701G>A