ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023329
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468193
ClinVar RCV Id:
RCV000541726
RCV002377105
RCV003999344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Val330Met
CA394315689
NM_001318832.2:c.988G>A