ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829972223
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000732320
RCV001086904
RCV002255384
RCV004000681
ClinVar Variation:
405962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg308Trp
CA056666
NM_021055.3:c.922C>T