Canonical Allele Identifier: PA891845398
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 570737
ClinVar RCV Id: RCV000691671 RCV001333240 RCV002233229 RCV002352138 RCV003889967
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr1962Cys
CA392339987
NM_000138.5:c.5885A>G