ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023174
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
572351
ClinVar RCV Id:
RCV000693713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Arg40Lys
CA394301347
NM_001318832.2:c.119G>A