Canonical Allele Identifier: PA2828094871
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 981444
ClinVar RCV Id: RCV001260880 RCV001760304 RCV001797832
ClinVar Variation Id: 1743528
ClinVar RCV Id: RCV002340251
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Met1549Ile
CA394308152
NM_001363528.2:c.4647G>A
CA394308153
NM_001363528.2:c.4647G>C
CA394308154
NM_001363528.2:c.4647G>T