Canonical Allele Identifier: PA2828415530
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2822987
ClinVar RCV Id: RCV003628036
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Lys1695Glu
CA394314411
NM_001370404.1:c.5083A>G