ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829981380
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535928
ClinVar RCV Id:
RCV000644158
RCV002331189
RCV004004004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Thr1442Ile
CA051214
NM_021055.3:c.4325C>T