ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827019539
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000497895
RCV000702009
RCV001021794
RCV004003505
ClinVar Variation:
432576
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Gly1300Val
CA394299390
NM_001318832.2:c.3899G>T