ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829983381
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001987304
ClinVar Variation:
1436299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Gln1681Lys
CA394313908
NM_021055.3:c.5041C>A