ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023257
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000538231
RCV002350303
ClinVar Variation:
468165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Val190Met
CA055211
NM_001318832.2:c.568G>A