ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827015672
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1509011
ClinVar RCV Id:
RCV002016530
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ile1293Ser
CA394304696
NM_001318831.2:c.3878T>G