Canonical Allele Identifier: PA658670683
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 458771
ClinVar RCV Id: RCV000559761 RCV000659626 RCV000998428 RCV002350201 RCV003994001
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg1832His
CA3394683
NM_001999.4:c.5495G>A