ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827003687
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_001305756.1:p.Ser1141Leu
CA394292082
NM_001318827.2:c.3422C>T