Canonical Allele Identifier: PA2827013943
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207783
ClinVar RCV Id: RCV000231440 RCV001016356 RCV003884383
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Arg701Cys
CA319592
NM_001318831.2:c.2101C>T