ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827019302
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486637
ClinVar RCV Id:
RCV000571806
RCV000706819
RCV002266988
RCV002491143
RCV004001158
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Arg1235Cys
CA276750224
NM_001318832.2:c.3703C>T