Canonical Allele Identifier: PA2827000707
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238095
ClinVar RCV Id: RCV000231494 RCV000608375 RCV001018094 RCV002500763 RCV004532858
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Glu250Asp
CA056597
NM_001318827.2:c.750G>C
CA394314999
NM_001318827.2:c.750G>T