ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829981099
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238046
ClinVar RCV Id:
RCV001082242
RCV000443899
RCV001022342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg1408His
CA050956
NM_021055.3:c.4223G>A