Canonical Allele Identifier: PA2827020520
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207757
ClinVar RCV Id: RCV000725350 RCV001314556 RCV002336506
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Arg1578Cys
CA053034
NM_001318832.2:c.4732C>T