ClinGen Allele Registry
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Canonical Allele Identifier:
PA916023038
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536003
ClinVar RCV Id:
RCV000644263
RCV001020148
RCV000765272
RCV003222074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg883Gln
CA046441
NM_001318831.2:c.2648G>A