ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828094135
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
466067
ClinVar RCV:
RCV000540815
RCV001672838
RCV002330897
RCV003999309
ClinVar Variation:
468071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Arg1343Gly
CA276753368
NM_001363528.2:c.4027C>G