ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825573440
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64986
ClinVar RCV Id:
RCV000055190
RCV000189888
RCV002390202
RCV003480048
RCV001853090
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Glu498Lys
CA014970
NM_001114382.3:c.1492G>A