ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024049
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
386865
ClinVar RCV Id:
RCV000433002
RCV000456443
RCV002323631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Met997Val
CA044156
NM_001318832.2:c.2989A>G