ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827014336
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2101785
ClinVar RCV Id:
RCV003026223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ser828Gly
CA394285868
NM_001318831.2:c.2482A>G