ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828410899
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000523784
RCV002438264
RCV003512053
ClinVar Variation:
453076
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Gln371Arg
CA394318377
NM_001370404.1:c.1112A>G