ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827018371
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2092647
ClinVar RCV Id:
RCV003008263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Lys917Glu
CA394279500
NM_001318832.2:c.2749A>G