ClinGen Allele Registry
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Canonical Allele Identifier:
PA916023317
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238097
ClinVar RCV Id:
RCV000229314
RCV003237787
RCV002372262
RCV003998845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Tyr321Cys
CA10583288
NM_001318832.2:c.962A>G