Canonical Allele Identifier: PA304248
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200097
ClinVar RCV Id: RCV000181583 RCV000772177 RCV000801637 RCV002277442 RCV001262421 RCV001729433
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg2306His
CA016829
NM_000138.5:c.6917G>A