Canonical Allele Identifier: PA2828419036
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318323
ClinVar RCV Id: RCV000319884 RCV000686655 RCV001551212 RCV002436165
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Lys945Arg
CA10648020
NM_001370405.1:c.2834A>G