ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829978801
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004520826
ClinVar Variation:
3232143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ser1089Trp
CA394286828
NM_021055.3:c.3266C>G