ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825574172
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
184386
ClinVar RCV Id:
RCV000163633
RCV000189993
RCV000230256
RCV002053949
RCV003995264
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Arg691Cys
CA016553
NM_001114382.3:c.2071C>T