ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827004372
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001929846
ClinVar Variation:
1365523
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Gly1340Ser
CA394301372
NM_001318827.2:c.4018G>A