ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829973025
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000444336
RCV001221267
RCV002318425
RCV004000390
ClinVar Variation:
383175
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.His435Tyr
CA029254
NM_021055.3:c.1303C>T