Canonical Allele Identifier: PA2828094136
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207683
ClinVar RCV Id: RCV001022088 RCV000915945 RCV001721232 RCV003996869
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Arg1343Gln
CA050701
NM_001363528.2:c.4028G>A