ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829981777
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
838523
ClinVar RCV Id:
RCV001040088
RCV001813810
RCV002339198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ile1502Met
CA394304898
NM_021055.3:c.4506C>G