ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828092831
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229369
ClinVar RCV Id:
RCV000218870
RCV000477004
RCV000574771
RCV003153493
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Gly958Glu
CA043736
NM_001363528.2:c.2873G>A