ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825438622
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000227544
RCV000572080
RCV003153526
ClinVar Variation:
238051
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Glu1423Gly
CA051259
NM_001077183.3:c.4268A>G