ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827002803
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_001305756.1:p.His853Tyr
CA040850
NM_001318827.2:c.2557C>T