Canonical Allele Identifier: PA2828417071
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49673
ClinVar RCV Id: RCV000042935 RCV002513627
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Arg381Lys
CA013922
NM_001370405.1:c.1142G>A