ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827007800
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000230681
RCV002261015
RCV002315685
RCV003998813
ClinVar Variation:
237986
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ser709Cys
CA10583307
NM_001318829.2:c.2126C>G