ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828415710
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
401725
ClinVar RCV:
RCV000471005
RCV000562164
RCV000610568
RCV003392272
RCV004000682
ClinVar Variation:
405968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Thr1736Ile
CA055164
NM_001370404.1:c.5207C>T