Canonical Allele Identifier: PA2827019720
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468071
ClinVar RCV Id: RCV000540815 RCV001672838 RCV003999309 RCV002330897
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Arg1353Gly
CA276753368
NM_001318832.2:c.4057C>G