ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022835
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_001305756.1:p.Thr988Ile
CA018678
NM_001318827.2:c.2963C>T