Canonical Allele Identifier: PA658670587
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 487464
ClinVar RCV Id: RCV000576844
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Gly1172Cys
CA360759437
NM_001999.4:c.3514G>T