ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827016916
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65349
ClinVar RCV Id:
RCV000055573
RCV001020231
RCV000227736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Glu125Lys
CA019111
NM_001318832.2:c.373G>A