ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827014000
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65065
ClinVar RCV Id:
RCV000055272
RCV000574785
RCV000533205
RCV001531839
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg717Gln
CA018086
NM_001318831.2:c.2150G>A