Canonical Allele Identifier: PA2825440070
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49374
ClinVar RCV Id: RCV000042634 RCV003114223
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Val1740Leu
CA022509
NM_001077183.3:c.5218G>T
CA394316312
NM_001077183.3:c.5218G>C