Canonical Allele Identifier: PA2827000317
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2700135
ClinVar RCV Id: RCV003512416
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Gln129Lys
CA394309117
NM_001318827.2:c.385C>A