ClinGen Allele Registry
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Canonical Allele Identifier:
PA916023849
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237986
ClinVar RCV Id:
RCV000230681
RCV002315685
RCV002261015
RCV003998813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ser769Cys
CA10583307
NM_001318832.2:c.2306C>G