Canonical Allele Identifier: PA2828413066
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65309
ClinVar RCV Id: RCV000055531 RCV001388145
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg1000Lys
CA018596
NM_001370404.1:c.2999G>A