ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024029
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318323
ClinVar RCV Id:
RCV000319884
RCV000686655
RCV001551212
RCV002436165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Lys956Arg
CA10648020
NM_001318832.2:c.2867A>G