Canonical Allele Identifier: PA645464742
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 375300
ClinVar RCV Id: RCV000416376 RCV001861464
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Cys982Phe
CA16044044
NM_001999.4:c.2945G>T