Canonical Allele Identifier: PA915959916
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 811411
ClinVar RCV Id: RCV001001254 RCV003769384 RCV002236066
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1942Arg
CA392340126
NM_000138.5:c.5824T>C