Canonical Allele Identifier: PA2828414517
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406115
ClinVar RCV Id: RCV000472949 RCV002256249 RCV004000721 RCV003237849
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg1426His
CA16614762
NM_001370404.1:c.4277G>A