Canonical Allele Identifier: PA2828410762
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468197
ClinVar RCV Id: RCV000559621 RCV002384165
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Glu332Lys
CA276776600
NM_001370404.1:c.994G>A