Canonical Allele Identifier: PA658691415
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495594
ClinVar RCV Id: RCV000589146 RCV000663651 RCV001211039
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr1186Cys
CA392324980
NM_000138.5:c.3557A>G