Canonical Allele Identifier: PA2828413109
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49566
ClinVar RCV Id: RCV000042826
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Trp1016Arg
CA018659
NM_001370404.1:c.3046T>C
CA394285514
NM_001370404.1:c.3046T>A