Canonical Allele Identifier: PA2825575798
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49528
ClinVar RCV Id: RCV000042788 RCV000996158
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Trp1208Arg
CA019404
NM_001114382.3:c.3622T>C
CA394291505
NM_001114382.3:c.3622T>A