Canonical Allele Identifier: PA2828421672
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49962
ClinVar RCV Id: RCV000043229 RCV003311673
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Leu1697Pro
CA022245
NM_001370405.1:c.5090T>C