Canonical Allele Identifier: PA2828415548
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65291
ClinVar RCV Id: RCV000055513 RCV001814036
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg1699Leu
CA022229
NM_001370404.1:c.5096G>T