ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827016953
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000550667
RCV001021036
RCV001115885
RCV001591241
ClinVar Variation:
468038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Lys136Arg
CA048294
NM_001318832.2:c.407A>G