Canonical Allele Identifier: PA2828421525
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49912
ClinVar RCV Id: RCV000043179 RCV000189943 RCV000512881 RCV000571102 RCV001082733 RCV002222154
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Arg1663Cys
CA021761
NM_001370405.1:c.4987C>T