Canonical Allele Identifier: PA320788
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213228
ClinVar RCV Id: RCV000310235 RCV000768222 RCV000659611 RCV000513490 RCV002310771
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Val1132Ile
CA320787
NM_001999.4:c.3394G>A