ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829981003
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000544382
RCV002330901
RCV003459242
RCV003999313
ClinVar Variation:
468080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Glu1399Val
CA394301360
NM_021055.3:c.4196A>T