Canonical Allele Identifier: PA2827009672
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49498
ClinVar RCV Id: RCV000042758 RCV002250506
ClinVar Variation Id: 1390361
ClinVar RCV Id: RCV001889529
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Gln1388His
CA020576
NM_001318829.2:c.4164G>T
CA394302743
NM_001318829.2:c.4164G>C