Canonical Allele Identifier: PA2828411933
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535908
ClinVar RCV Id: RCV000644135 RCV001013922
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Leu663Arg
CA394274401
NM_001370404.1:c.1988T>G