Canonical Allele Identifier: PA2827001243
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467864
ClinVar RCV Id: RCV000532223 RCV001011150 RCV003470757 RCV003999250 RCV001770439
ClinVar Variation Id: 1042948
ClinVar RCV Id: RCV001346983 RCV002384481 RCV004005209
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Phe415Leu
CA029417
NM_001318827.2:c.1245C>A
CA394323342
NM_001318827.2:c.1243T>C
CA394323377
NM_001318827.2:c.1245C>G