ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827004265
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468071
ClinVar RCV Id:
RCV000540815
RCV001672838
RCV003999309
RCV002330897
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Arg1306Gly
CA276753368
NM_001318827.2:c.3916C>G