Canonical Allele Identifier: PA2828416472
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_001357334.1:p.Val199Leu
CA022614
NM_001370405.1:c.595G>C