ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827006598
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49140
ClinVar RCV Id:
RCV000042395
RCV000413741
RCV001065226
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Leu313Pro
CA013704
NM_001318829.2:c.938T>C