ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827000657
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480835
ClinVar RCV Id:
RCV000567862
RCV001035509
RCV002291670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Tyr237Cys
CA394313259
NM_001318827.2:c.710A>G