ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023802
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055552
RCV000494277
RCV000660343
RCV002415509
ClinVar Variation:
65328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Val716Met
CA016792
NM_001318832.2:c.2146G>A