ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828414420
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_001357333.1:p.Gly1399Ser
CA394301372
NM_001370404.1:c.4195G>A