Canonical Allele Identifier: PA2828419695
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468021
ClinVar RCV Id: RCV000527232 RCV000764028 RCV002225656 RCV000567911
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ala1141Val
CA394289510
NM_001370405.1:c.3422C>T