ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825572403
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468165
ClinVar RCV Id:
RCV000538231
RCV002350303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Val179Met
CA055211
NM_001114382.3:c.535G>A