ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825576462
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002716230
ClinVar Variation:
1963872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Glu1419Gln
CA394301341
NM_001114382.3:c.4255G>C