ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828095392
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2119302
ClinVar RCV Id:
RCV003054591
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Ile1681_Arg1685delinsSer
CA2580091167
NM_001363528.2:c.5042_5053del