Canonical Allele Identifier: PA2827006610
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 429535
ClinVar RCV Id: RCV000493232 RCV001064683 RCV002431439 RCV004003479
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ile316Val
CA028137
NM_001318829.2:c.946A>G