Canonical Allele Identifier: PA2827021064
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2679334
ClinVar RCV Id: RCV003466464
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Val1712Leu
CA394315356
NM_001318832.2:c.5134G>C
CA394315357
NM_001318832.2:c.5134G>T