Canonical Allele Identifier: PA2827003640
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49527
ClinVar RCV Id: RCV000042787 RCV000660346
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Gly1124Arg
CA019365
NM_001318827.2:c.3370G>A
CA394289756
NM_001318827.2:c.3370G>C