ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828410437
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
401406
ClinVar RCV:
RCV000458732
RCV002365618
ClinVar Variation:
406031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Pro232Ser
CA056156
NM_001370404.1:c.694C>T