Canonical Allele Identifier: PA321026
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213321
ClinVar RCV Id: RCV000196600 RCV000814432 RCV004020358
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Glu1265Lys
CA321025
NM_001999.4:c.3793G>A