Canonical Allele Identifier: PA2827000418
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135378
ClinVar RCV Id: RCV000122219 RCV000810100
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Val162Leu
CA022614
NM_001318827.2:c.484G>C