Canonical Allele Identifier: PA2828420169
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41738
ClinVar RCV Id: RCV000034655 RCV000054856 RCV000118707 RCV000163277 RCV000462108 RCV003153325
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Arg1286His
CA019777
NM_001370405.1:c.3857G>A