ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024007
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135375
ClinVar RCV Id:
RCV000122214
RCV000471145
RCV001704039
RCV002256078
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Leu932Val
CA018107
NM_001318832.2:c.2794C>G