ClinGen Allele Registry
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Canonical Allele Identifier:
PA645432558
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000458545
RCV002257697
RCV002291628
RCV003463868
ClinVar Variation:
406086
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Glu845Gly
CA039405
NM_000548.5:c.2534A>G