Canonical Allele Identifier: PA2828411646
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49173
ClinVar RCV Id: RCV000042429 RCV001298722 RCV001565367
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.His593Arg
CA015696
NM_001370404.1:c.1778A>G