Canonical Allele Identifier: PA2827011945
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468013
ClinVar RCV Id: RCV000543971 RCV002456156 RCV003999289
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Val1047Ile
CA046764
NM_001318829.2:c.3139G>A