Canonical Allele Identifier: PA282221
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42361
ClinVar RCV Id: RCV000035200 RCV000610340
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1469Pro
CA015037
NM_000138.5:c.4406G>C