ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827005698
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001023976
RCV001204908
RCV001696827
ClinVar Variation:
449819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Tyr1685Cys
CA055219
NM_001318827.2:c.5054A>G