ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264706
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65307
ClinVar RCV Id:
RCV000055529
RCV000122212
RCV000234257
RCV000564486
RCV001703965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Lys658Thr
CA016374
NM_000548.5:c.1973A>C