Canonical Allele Identifier: PA2499260006
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1016918
ClinVar RCV Id: RCV001315993
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Thr1416Ile
CA360754166
NM_001999.4:c.4247C>T