Canonical Allele Identifier: PA2828417543
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 187099
ClinVar RCV Id: RCV000166788 RCV000536283 RCV003995532
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ile530Val
CA015168
NM_001370405.1:c.1588A>G