ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023976
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536006
ClinVar RCV Id:
RCV000644267
RCV001016255
RCV002264970
RCV004004025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.His901Tyr
CA040850
NM_001318832.2:c.2701C>T