Canonical Allele Identifier: PA2827004196
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238044
ClinVar RCV Id: RCV000234433 RCV002327110
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Glu1287Lys
CA050575
NM_001318827.2:c.3859G>A