ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828420450
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41740
ClinVar RCV Id:
RCV000034657
RCV000054871
RCV000566784
RCV000606975
RCV000768352
RCV001082570
RCV004534723
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Arg1366Trp
CA020096
NM_001370405.1:c.4096C>T