ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827007824
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281384
ClinVar RCV Id:
RCV000515105
RCV000564756
RCV001086437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ala716Val
CA10603864
NM_001318829.2:c.2147C>T