ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264762
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055605
RCV001042510
ClinVar Variation:
65377
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Thr1068Ile
CA018678
NM_000548.5:c.3203C>T