Canonical Allele Identifier: PA323807
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213331
ClinVar RCV Id: RCV000199274 RCV000863851 RCV002277528 RCV002315584
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Val1548Ile
CA323806
NM_001999.4:c.4642G>A