ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645435832
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318336
ClinVar RCV Id:
RCV000373763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Glu1756Gly
CA10643155
NM_000548.5:c.5267A>G