Canonical Allele Identifier: PA2827003714
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2016405
ClinVar RCV Id: RCV002843884
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Gln1149His
CA394292399
NM_001318827.2:c.3447G>C
CA394292405
NM_001318827.2:c.3447G>T