ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827020247
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2058376
ClinVar RCV Id:
RCV002905031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Gly1497Val
CA394305082
NM_001318832.2:c.4490G>T