Canonical Allele Identifier: PA358194
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 225102
ClinVar RCV Id: RCV000210681 RCV000489643 RCV001439397
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Thr2278Met
CA358193
NM_001999.4:c.6833C>T