ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825574712
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
391969
ClinVar RCV Id:
RCV000432659
RCV001015871
RCV001079672
RCV004000567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Thr849Ala
CA16607307
NM_001114382.3:c.2545A>G