ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829979501
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
943389
ClinVar RCV Id:
RCV001213568
RCV004033893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ser1178Leu
CA394292082
NM_021055.3:c.3533C>T