ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658681391
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449819
ClinVar RCV Id:
RCV001023976
RCV001204908
RCV001696827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Tyr1788Cys
CA055219
NM_000548.5:c.5363A>G