ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828415545
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000043100
RCV001249601
ClinVar Variation:
49834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Arg1699Gly
CA022207
NM_001370404.1:c.5095C>G