ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828414739
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
848503
ClinVar RCV Id:
RCV001052273
RCV002339262
RCV003156307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Glu1484Gln
CA394304419
NM_001370404.1:c.4450G>C