ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828421597
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535931
ClinVar RCV Id:
RCV000644161
RCV002334132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.His1679Tyr
CA054330
NM_001370405.1:c.5035C>T