Canonical Allele Identifier: PA282183
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42312
ClinVar RCV Id: RCV000035146 RCV003764663
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys832Trp
CA013163
NM_000138.5:c.2496T>G