ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829979210
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
184243
ClinVar RCV Id:
RCV000163457
RCV000430228
RCV001083093
RCV003995258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Glu1136Lys
CA019256
NM_021055.3:c.3406G>A