ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825576465
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001367751
ClinVar Variation:
1058594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Gly1420Val
CA394301384
NM_001114382.3:c.4259G>T