ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825574029
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055529
RCV000122212
RCV000234257
RCV000564486
RCV001703965
ClinVar Variation:
65307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Lys658Thr
CA016374
NM_001114382.3:c.1973A>C