ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828416374
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2700135
ClinVar RCV Id:
RCV003512416
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Gln166Lys
CA394309117
NM_001370405.1:c.496C>A