Canonical Allele Identifier: PA2827019473
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135385
ClinVar RCV Id: RCV000122231 RCV000227253 RCV000350281 RCV000490949 RCV004542922 RCV000858996
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Ser1280Leu
CA019831
NM_001318832.2:c.3839C>T