ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828090248
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65103
ClinVar RCV Id:
RCV000055314
RCV000533936
RCV001553178
RCV002255276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Arg208Trp
CA022695
NM_001363528.2:c.622C>T