Canonical Allele Identifier: PA658812489
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 510894
ClinVar RCV Id: RCV001472308 RCV001355213
ClinVar Variation Id: 565354
ClinVar RCV Id: RCV000684895
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Gln31His
CA3396229
NM_001999.4:c.93G>T
CA360762942
NM_001999.4:c.93G>C