Canonical Allele Identifier: PA2828416234
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468038
ClinVar RCV Id: RCV000550667 RCV001021036 RCV001115885 RCV001591241
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Lys125Arg
CA048294
NM_001370405.1:c.374A>G