ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023760
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237976
ClinVar RCV Id:
RCV000231534
RCV000605322
RCV000571411
RCV002478840
RCV003477796
RCV004532842
RCV003998807
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Val690Met
CA035939
NM_001318832.2:c.2068G>A