Canonical Allele Identifier: PA2828419935
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 381049
ClinVar RCV Id: RCV000435216 RCV001080300 RCV002257673
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Thr1217Met
CA048383
NM_001370405.1:c.3650C>T