ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827006290
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000055226
RCV000234531
RCV000248644
RCV000570250
ClinVar Variation:
65021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg196His
CA022905
NM_001318829.2:c.587G>A