ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825439709
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000548829
RCV000615984
RCV002350301
ClinVar Variation:
468161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Thr1713Pro
CA276760048
NM_001077183.3:c.5137A>C