ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828421829
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468161
ClinVar RCV Id:
RCV000548829
RCV000615984
RCV002350301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Thr1733Pro
CA276760048
NM_001370405.1:c.5197A>C