Canonical Allele Identifier: PA319363
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207671
ClinVar RCV Id: RCV000189907 RCV000525436 RCV001015274 RCV003462291 RCV003996866
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val806Met
CA319361
NM_000548.5:c.2416G>A