ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827005992
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468038
ClinVar RCV Id:
RCV000550667
RCV001021036
RCV001115885
RCV001591241
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Lys76Arg
CA048294
NM_001318829.2:c.227A>G